Biography
Dr. Pelleymounter holds degrees and certificates in multiple fields, including biology, education, german, and diagnostic radiologic technology. She also holds a doctoral degree in music. Dr. Pelleymounter acquired her degrees from Luther College, the University of Texas at Austin, UIHCs and the University of Iowa. Since working in the field of Pharmacogenomics, she has analyzed over 30 human genes and been an author on 22 publications in the field. Dr. Pelleymounter also has SNP discoveries covered by multiple issued patents and a pending patent on a novel methodology for next-generation sequencing analysis. She currently works at the Mayo Clinic, Department of Pharmacology and Experimental Therapeutics, where her primary duty is as a Genomic Research Analyst Technologist.Dr Linda Pelleymounter from Mayo Clinic, USA made her valuable remarks at International Conference on Biometrics & Biostatistics held during March 5-7, 2012 in Omaha Marriott, USA hosted by OMICS Group Conferences.
Research Interest
Pharmacogenomics, SNP discoveries, Pharmacology and Experimental Therapeutics
Related Publications
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Evolutionary Genetics Tracing the History of Life through DNA
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DOI:
Lisa Ranford
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Post Translational and Conformational Changes in Proteins: Signal Transduction and Flagging
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Shall Laura
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Plants Utilized Against Bacterial and Mitigating Movement
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Genetic Disorders and Their Inheritance Patterns
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Gainful Plant-Related Microscopic Organisms and its Determination
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Sub-atomic Hereditary Qualities of DNA Fix in Higher Plants
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Genetic Engineering Ethics and Applications
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Downsyndrome
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The Nature and Development of Plant Resistance
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The Role of Chromosomes in Inheritance and Genetic Diversity
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Pituitary Adenomas can cause Raised Degrees of Chemicals and Factors
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Advancement of Basal-Cell Carcinoma or Cutaneous Cell Carcinoma
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Phenotypic Variances and Covariance into Genetic
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Discoveries in Clear Cell Chondrosarcoma
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Adversely Affect Both Actual Wellness and Mental Turn of Events
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Sajeev Nair
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Lymphoblastic Cell Lines
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Tissue Levels in Delicate Tissue Neoplasms
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Metabolic Syndrome X
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Emerging Technologies in Genetic Testing and Screening
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Evolutionary Genetic Information
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Genetic Brain Disorders Complexities of the Human Mind
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Russell E Ware
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Removal of DNA Fragment
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Genomic Insights: Advances in Genetic Diagnosis and Therapeutic Strategies
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Shuang Kong
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Hereditary Tendencies: Genetic Disorders and their Association with Cancer
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Genetic Epidemiology: Illuminating the Interplay between Genes and Disease
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Young Researchers Forum: Young Scientist Awards for System Biology 2020
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Market Analysis of Glycobiology and Glycochemistry 2020
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Genetic Predisposition: Influence of Genetics on Disease Risk
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Yuin Hie
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Young Scientist Awards at Genome Editing 2020 for the best researches in Genome Editing and Gene Therapy
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William J. Rowe
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Human in Vitro Cellular Models
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Chatchawan Jantasuriyarat
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Lymphoblastic Cell Lines
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Genetic Disorders and Therapeutic Interventions: Precision Medicine
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Genetics of Neurological Disorders from Genes to Function
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Multifactorial and Polygenic Disorders: Unraveling the Complexity of Genetic Contributions
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Understanding Genes and Chromosomes
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Metabolic Syndrome X
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Unraveling Rare Genetic Variants and Their Clinical Implications
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Association Study of IVS8TGmTn Polymorphism and Cystic Fibrosis Disease in a Tunisian Population
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Congenital anomalies
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Neurocognitive Functioning in a Young Female with Weaver Syndrome
Case Report: J Genet Disor Genet Rep, 6:1
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Wise JM, Cooper A, Crenshaw ML and Katzenstein JM
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Gene Card: A Personalized Guide to Genetic Counselling for Low Resource Countries
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Gene therapy
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Chromosome 22q11.2 and 7q11.23 Microdeletions in Children with Congenital Heart Defects Detected by Fish Technique
Research Article: J Genet Disor Genet Rep, 5:4
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Glycobiology
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Young Scientist Awards at Genome Editing 2020 for the Best Researches in Genome Editing and Gene Therapy
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Evolutionary Genetic Information
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Evaluate RNA Sequences
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Francesca Malchiodi
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Market Analysis of Genome Editing and Gene Therapy
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Aging: A Little (Oxidative) Stress is Good for You
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A Case of MEN2A Associated with a C634R De-novo Mutation of the RET Gene at Algiers
Case Report: J Genet Disor Genet Rep
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Ammar Chikouche, Nadia Ould Bessi, Nawal Habak and Mebarek Boudissa
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Awards 2020 Genome Editing and Gene Therapy
Awards 2020: J Genet Disor Genet Rep
DOI:
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Evaluation of the Progression of Hybridoma Technology: Methods, Applications, Advantages and Drawbacks
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Achim Cchitvsanzwhoh Satheka and Adhanom Mihretab Tesfamariam
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A Turner Patient Presenting Dicentric Ring X-Chromosome and Intellectual Disability
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Novel Homozygous Variant of TBC1D8 Gene in Four Libyan Siblings with Autistic Spectrum Disorder and Intellectual Disability without Epilepsy
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Fetuin A Concentration in the Amniotic Fluid of Fetuses with Down Syndrome
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Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD
Case Report: J Genet Disor Genet Rep 2014, 4:1
DOI: 10.4172/2327-5790.1000119
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Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations
Research Article: J Genet Disor Genet Rep 2014, 4:1
DOI: 10.4172/2327-5790.1000120
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Market Analysis of Glycobiology and Glycochemistry 2020
Market Analysis: J Genet Disor Genet Rep
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Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan
Research Article: J Genet Disor Genet Rep 2014, 4:1
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Jehangir Khan, Arshad Ali, Bakht Tarin Khan , Zaheer Ahmad and Waqas Ahmad Shams
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Autosomal Dominant Inheritance: The Patterns of Genetic Transmission
Commentary: J Genet Disor Genet Rep
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Emily Bart
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Syndromic Autism Spectrum Disorder
Perspective: J Genet Disor Genet Rep
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Olivia Jhon
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Role of Genetic Factors and their Interaction in Life
Commentary: J Genet Disor Genet Rep
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Alex Ceron
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Cytogenetics: Exploring the Chromosomal Frontier of genome
Commentary: J Genet Disor Genet Rep
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Laura Hella
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Genetic Determinants of Salt- Sensitive Hypertension
Editorial: J Genet Disor Genet Rep 2012, 1:1
DOI: 10.4172/2327-5790.1000e101
Marlene Shehata, Fady Youssef and Alan Pater
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Chromosomal Disorders
Commentary: J Genet Disor Genet Rep
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Jobia Alex
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Genetic Basis of Phenotypic Variation: Exploring Individual Differences at the Molecular Level
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Eli Bruce
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Genetic Studies of Complex Diseases in the Sequence Era
Editorial: J Genet Disor Genet Rep 2012, 1:1
DOI: 10.4172/2327-5790.1000e102
Momiao Xiong
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Chromosome Abnormalities and a Decreased Implantation Potential
Commentary: J Genet Disor Genet Rep
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Simon Alex
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Application of Laboratory Techniques for DNA and RNA Transformation
Perspective: J Genet Disor Genet Rep
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Luca Fronto
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Translational Research to Uncover Diagnostic & Therapeutic Gene Targets Emerging in a Genomic Era: from Bench to Bedside
Editorial: J Genet Disor Genet Rep 2012, 1:1
DOI: 10.4172/2327-5790.1000e103
Blum K, Giordano J, Borsten J, Downs BW, Hauser M, Simpatico T, Lohmann R, Braverman ER and Barh D
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Molecular Genetics: Unlocking the Perspective of Life
Perspective: J Genet Disor Genet Rep
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Cristina Palo
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Genetic Networks in Heterogeneous Populations
Editorial: J Genet Disor Genet Rep 2012, 1:1
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Mogen Fenger
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Modeling the Novel Gene in Zebra Fish: EXD2 (Exonuclease 3'-5' Domain Containing 2)
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Shamsa Hilal Anzi, Hayfa Alrasheed, Maher M. Alsaif, Mohammed A. Aldahmesh
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Neurogenetics: The Intersection of Genetics and the Brain
Perspective: J Genet Disor Genet Rep
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Min Plenge
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Edwards Syndrome: A Genetic Disorder with Profound Impacts
Opinion Article: J Genet Disor Genet Rep
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Osaka Akiyama
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Genetic Development: The Process Behind Evolution of Gene Regulation
Opinion Article: J Genet Disor Genet Rep
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Jenny Hacken
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X Chromosomes Linked Traits: Unveiling the Genetics Chromosome
Short Communication: J Genet Disor Genet Rep
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Endometriosis and Infertility
Special Issue Article: J Genit Syst Disord 2020
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DNA Sequencing Methods
Perspective: J Genet Disor Genet Rep
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Arman Qureshi
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Gene Therapy for Mucopolysaccharidoses State of the Art
Perspective: Genet Disor Genet Rep
DOI:
Kitain Eric
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Endometriosis and Infertility
Special Issue Article: J Genit Syst Disord 2020
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Mohammad Ebrahim Parsanezhad
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Hematopoietic Stem Cell Gene Therapy Ameliorate Involvement
Perspective: Genet Disor Genet Rep
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Kevin Rock
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Genetic Disorders and Genetic Reports
Editorial: J Genet Disor Genet Rep
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Yanmin Yang
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Review on polycystic ovary syndrome, clinical manifestations, diagnostic
Special Issue Article: J Genit Syst Disord 2020
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Priyanga Poomani
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Development of Gene Therapies for Inborn Errors of Immunity
Commentary: Genet Disor Genet Rep
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Serdar Mohan
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Mutation: The Key to Our Evolution
Editorial: J Genet Disor Genet Rep
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Rajinder Kaul
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Assessing the current practice among doctors toward managing postpartum hemorrhage in Khartoum state 2018
Special Issue Article: J Genit Syst Disord 2020
DOI:
Rayan Adam Mahdi
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Homologous and Non Homologous End Joining
Opinion Article: J Genet Disor Genet Rep
DOI:
Arena Lac
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Externally Manufactured Investigational Cell-Gene Therapy Products
Commentary: Genet Disor Genet Rep
DOI:
Richard Kline
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Prevalence and correlates of female sexual dysfunctions- A pilotstudyfromBahrain
Special Issue Article: J Genit Syst Disord 2020
DOI:
Rizk Dee
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Clinical Hereditary Qualities Varies from Human Hereditary Qualities
Editorial: J Genet Disor Genet Rep
DOI:
Max Wilson
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Cell and Gene Therapies for Lung Diseases and Critical Illnesses
Opinion Article: Genet Disor Genet Rep
DOI:
Mathew Howard
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Human Umbilical Cord Tissue-Derived Mesenchymal Stem Cells and Stem Cell Condi- tioned Medium and their potentials towards regenerative application
Editorial: J Genit Syst Disord 2020
DOI:
Ranith Mishori
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Utilization of Customized Medication Incorporate Oncogenomics and Pharmacogenomics
Opinion Article: J Genet Disor Genet Rep
DOI:
Allen Stokes
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Transformations in Qualities on the X and Y Chromosome
Perspective: J Genet Disor Genet Rep
DOI:
Alex Hill
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Strategies for Non-Viral Quality Treatment
Perspective: J Genet Disor Genet Rep
DOI:
Kazuhiro Sakamoto
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Huge Scope Transformations in Chromosomal Design
Editorial: J Genet Disor Genet Rep
DOI:
Andy Crews
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Autosomal Predominant or Autosomal Passive are Utilized to Portray Quality Variations on Non Sex Chromosomes
Opinion Article: J Genet Disor Genet Rep
DOI:
Bell Hooks
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Pre-Implantation Genetic Diagnosis is the Hereditary Profiling of Undeveloped Organisms
Commentary: J Genet Disor Genet Rep
DOI:
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The Interpretation of Genetic Data - Considering the Effect of Changes to Gene Conformation - If the Facts Do not Support the Theory, Change the Theory-How Does This Contribute to Understanding Diabetes?
Commentary: J Genet Disor Genet Rep
DOI:
Graham Ewing
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Creature Hereditary Qualities Frequently Centers Around Parentage and Genealogy
Perspective: J Genet Disor Genet Rep
DOI:
David Axton
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Market Analysis of Genome Editing and Gene Therapy
Market Analysis: J Genet Disor Genet Rep
DOI:
William J. Rowe
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Genotype is Alluded to as Heterozygous
Editorial: J Genet Disor Genet Rep
DOI:
Aaron Wolfe
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Cytogenetic is Basically a Part of Hereditary Qualities
Editorial: J Genet Disor Genet Rep
DOI:
Bell Jones
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Advancement in Gene Therapy and Genome Editing
Editorial: J Genet Disor Genet Rep
DOI:
Yanmin Yang
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Undiagnosed/Untreated Phenylketonuria (PKU) With Normal IQ and the Possible Role of Magnetic Resonance Spectroscopy (MRS)/Correlated Spectroscopy (COSY)
Review Article: J Genet Disor Genet Rep
DOI:
William B Hanley*
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Advancements in Genomic Sequencing Technologies: Implications for Genetic Diagnosis
Commentary: J Genet Disor Genet Rep
DOI:
Laura Hailden
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Apert Syndrome: A Comprehensive Examination of Craniosynostosis and Limb Abnormalities
Short Communication: J Genet Disor Genet Rep
DOI:
Anna Monti
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Understanding Thalassemia and Hemoglobinopathies: Insights and Implications
Commentary: J Genet Disor Genet Rep
DOI:
Rico Samuel
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Gene Therapy for Inherited Genetic Disorders: Recent Breakthroughs and Challenges
Commentary: J Genet Disor Genet Rep
DOI:
Jiayi Kevin
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CGH Array Based Case Report of a Patient Suffering with Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus and Oligozoospermia
Research Article: J Genet Disor Genet Rep
DOI: 10.4172/2327-5790.1000122
Neetu Singh, Dinesh Kumar Sahu, Parth Purwar, Sanjeev Gupta, Anil Kumar Tripathi, Jaya Dixit, Ravi Kant and Devendra Kumar Gupta
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Endovascular Treatment of Lower Extremity Venous Insufficiency
Commentary: J Genet Disor Genet Rep
DOI:
Steven Parks*
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Global Initiatives in Genomic Medicine: Collaborative Approaches to Treat Genetic Disorders
Perspective: J Genet Disor Genet Rep
DOI:
Amy Chen
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Patau's Syndrome: A Comprehensive Exploration of a Complex Genetic Disorder
Perspective: J Genet Disor Genet Rep
DOI:
Tae Zhenag
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Understanding Congenital Adrenal Hyperplasia: Genetic and Hormonal Complexities Unveiled
Perspective: J Genet Disor Genet Rep
DOI:
Patrica Licio
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Postoperative Sickness and Heaving: Understanding the Mystery
Commentary: J Genet Disor Genet Rep
DOI:
George Volkert*
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Ehlers-Danlos Syndrome: Subtypes and Diagnostic Advances Explored
Opinion Article: J Genet Disor Genet Rep
DOI:
Eric Romano
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Chromosomal Shakiness and Aneuploidy as Reasons for Disease Drug Obstruction
Opinion Article: J Genet Disor Genet Rep
DOI:
Maeve M Monkaaa*
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Precision Medicine in Genetic Disorders: Current State and Future Prospects
Opinion Article: J Genet Disor Genet Rep
DOI:
Cindy Hiwai
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Demystifying Marfan Syndrome: Insights into Genetic Origins and Clinical Features
Opinion Article: J Genet Disor Genet Rep
DOI:
Alissa Paul
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RPOB Gene Polymorphism and its Association with Multi Drug Resistance Pattern of Mycobacterium Tuberculosis and Associated Risk Factors among TB Patients
Research Article: J Genet Disor Genet Rep, 4:2
DOI: 10.4172/2327-5790.1000123
Tekeba Sisay and Nega Berhane
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Ring14 International:Development of a National-Based Patient Association towards a âGlobalâ Network Initiative to Fight a Chromosomal Disorder
Short Communication: J Genet Disor Genet Rep, 4:2
DOI: 10.4172/2327-5790.1000124
Stefania Azzali, Yssa DeWoody, Berardo Rinaldi and Marco Crimi
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Ring 9 Chromosome Syndrome in Black African Infant
Case Report: J Genet Disor Genet Rep, 4:2
DOI: 10.4172/2327-5790.1000125
Alao MJ, Lal�y� A, Adjagba M, Ayivi B and Darboux R
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Indigenous Complimentary Health Seeking Behavior among Caregivers of Sickle Cell Disorder in Nigeria
Research Article: J Genet Disor Genet Rep, 4:2
DOI: 10.4172/2327-5790.1000126
Omiunu Ojinga Gideon and Akahchukwu Patience Chioma
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Market Analysis of Glycobiology and Glycochemistry 2020
Market Analysis: J Genet Disor Genet Rep
DOI:
Dr. Alireza Heidari
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Genetic Predisposition and Environment Factors
Editorial: Genet Disor Genet Rep
DOI:
Bob Mareley
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Young Researchers Forum: Young Scientist Awards for System Biology 2020
Young Research Forum: J Genet Disor Genet Rep
DOI:
Gottfried Baier
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Comparison of Sire Component Estimates Between Male and Female Offspring.
Editorial: Genet Disor Genet Rep
DOI:
Nobuo Kanazawa
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Neoplasia Caused by Asbestos Exposure
Editorial: Genet Disor Genet Rep
DOI:
Bob Mareley
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Aging: A Little (Oxidative) Stress is Good for You
Commentary: J Genet Disor Genet Rep
DOI:
Terrance J. Kubisesk
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Mental Illnesses
Editorial: Genet Disor Genet Rep
DOI:
Basin Mahar
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The Inside and out Assessment of Thought Mitochondrial Sickness
Commentary: J Genet Disor Genet Rep
DOI:
Roger Federer*
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Abnormalities in Human Embryos
Editorial: Genet Disor Genet Rep
DOI:
Basin Mahar
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Changes in GNRH1 as an Uncommon Reason for Separated Inadequacy
Commentary: J Genet Disor Genet Rep
DOI:
Root Willson*
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A Hereditary Calculation Adjustment Technique in Light of Intermingling
Opinion Article: J Genet Disor Genet Rep
DOI:
Woakes Chris*
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Preimplantation Hereditary Testing: An Audit of Current Modalities
Opinion Article: J Genet Disor Genet Rep
DOI:
Williamson Kristen*
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Effect and Co-operations among Smoking and Customary Prognostic Elements
Perspective: J Genet Disor Genet Rep
DOI:
Jordan Kate*
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Young Scientist Awards at Genome Editing 2020 for the best researches in Genome Editing and Gene Therapy
Young Research Forum: J Genet Disor Genet Rep
DOI:
William J. Rowe
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Mutation: The Key to Our Evolution
Editorial: J Genet Disor Genet Rep
DOI:
Rajinder Kaul
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Conceptual of Autism
Editorial: Genet Disor Genet Rep 2020
DOI:
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Bioinformatics
Editorial: Genet Disor Genet Rep 2020
DOI:
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Genetic Brain Disorders
Editorial: Genet Disor Genet Rep 2020
DOI:
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DNA: Desoxyribonucleic Acid
Editorial: Genet Disor Genet Rep 2020
DOI:
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Genetic Epidemiology
Editorial: Genet Disor Genet Rep 2020
DOI:
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Young Researchers Forum: Young Scientist Awards for Genetics 2020
Young Research Forum: J Genet Disor Genet Rep
DOI:
Gail Risbridge
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Young Researchers Forum: Young Scientist Awards for System Biology 2020
Young Research Forum: J Genet Disor Genet Rep
DOI:
Gottfried Baier
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History Versus Limits of Science: Is Solomonic Genius a Y Chromosome Phenomenon?
Rapid Communication: J Genet Disor Genet Rep 2014, 3:2
DOI: 10.4172/2327-5790.1000114
F I D Konotey-Ahulu
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Maternal and Paternal Age at Pregnancy for Low Incidence Trisomy Groups: Preliminary Findings and Implications
Research Article: J Genet Disor Genet Rep 2014, 3:2
DOI: 10.4172/2327-5790.1000115
Katherine S Ancell and Deborah A Bruns
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Cross-Sectional Cohort Ukrainian Megapolice Sample Study of People�s Reactions to Faces of Patients with Different Mental Conditions
Research Article: J Genet Disor Genet Rep 2014, 3:2
DOI: 10.4172/2327-5790.1000116
Filiptsova OV and Atramentova LA
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Biotinidase Deficiency Presenting as Hyperventilation Syndrome
Case Report: J Genet Disor Genet Rep, 6:1
DOI: 10.4172/2327-5790.1000149
Iwanicka-Pronicka K, Pajdowska M, Dariusz Rokicki, Piekutowska-Abramczuk D, Kozlowski D,Wisniewska-Ligier D, Ksiazyk JB, Krajewska-Walasek M, Wolf B and Pronicka E
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PROK2 and PNCK â Novel Proteins Present in Follicular Fluid of Mature and Immature Human Oocytes: Preliminary Study
Research Article: J Genet Disor Genet Rep, 6:1
DOI: 10.4172/2327-5790.1000150
Burnik Papler T, Verdenik I, Devjak R,Vrtacnik Bokal E
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Ethical Implications in Genetic Counseling and Family Studies of the Epilepsies
Editorial: J Genet Disor Genet Rep
DOI:
Béatrice Godard
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Glucocorticoids are among the Best Treatments in the Therapy of Persistent Incendiary and Immune System Illnesses
Commentary: J Genet Disor Genet Rep
DOI:
Behzad Behnam
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Perceptions of Genetic Discrimination among at Risk Relatives of Colorectal Cancer Patients
Perspective: J Genet Disor Genet Rep
DOI:
Sakshi Kaur
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Novel Mutation in Slc37a4 Gene Found by Whole-Exome Sequencing in Type I Glycogen Storage Disease (Von Gierke)
Research Article: J Genet Disor Genet Rep
DOI:
Zakieh Siahpoosh
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Genetics 2020- Market Analysis
Market Analysis: J Genet Disor Genet Rep
DOI:
VINCENT STEVEN
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Identification of a Novel Mutation in the Human ARSB Gene on Chromosome 5q14.1 for Autosomal Recessive Mucopolysaccharidosis Type VI Patients in Southwest Colombia
Case Report: J Genet Disor Genet Rep, 6:1
DOI: 10.4172/2327-5790.1000151
Acosta MA, Lago RM,Barros F,Carracedo AM
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Penile Sebaceous Adenoma with Sporadic Loss of MLH-1 and PMS2 Protein Expression: A Case Report and Review of Literature
Case Report: J Genet Disor Genet Rep
DOI:
Blaire A. Anderson, Shaofeng Yan and Bing Ren
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Understanding the Genetic Basis, Clinical Manifestations, and Therapeutic Approaches for Congenital Adrenal Hyperplasia
Commentary: J Genet Disor Genet Rep
DOI:
Farid Ahmed
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X-Linked Inheritance and Dominance: Clinical Insights and Management Strategies
Perspective: J Genet Disor Genet Rep
DOI:
Mich González
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Market Analysis of Genome Editing and Gene Therapy
Market Analysis: J Genet Disor Genet Rep
DOI:
William J. Rowe
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Genetic Reports in Population Health: Current Trends and Implications
Opinion Article: J Genet Disor Genet Rep
DOI:
Nasser Khan
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Integrative Genomics Approaches Unraveling the Complexity of Uncommon Genetic Disorders
Opinion Article: J Genet Disor Genet Rep
DOI:
Dalton Smith
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The Genomic Renaissance: A Comprehensive Overview of Emerging Technologies in Genetic Diagnosis
Commentary: J Genet Disor Genet Rep
DOI:
Sean Adrian
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International Conference on Genetic Mutations and Disorders
Editorial: J Genet Disor Genet Rep
DOI:
RAUSCHER ALEXANDER
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Young Scientist Awards at Genome Editing 2020 for the best researches in Genome Editing and Gene Therapy
Young Research Forum: J Genet Disor Genet Rep
DOI:
William J. Rowe
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Young Research Forum-Young Scientist Awards at Glycobiology 2020
Young Research Forum: J Genet Disor Genet Rep
DOI:
Alireza Heidari
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Execution of a Cutting Edge Sequencing Test for Checking of Blended Chimerism
Opinion Article: Genet Disor Genet Rep
DOI:
Dan Hauzenberger*
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Molecular Genetic Testing for Carrier - Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1
Research Article: J Genet Disor Genet Rep 2014, 3:2
DOI: 10.4172/2327-5790.1000117
Kathirvel Renugadevi, John Asnet Mary, Vijayalakshmi Perumalsamy, Suresh Seshadri, Sujatha Jagadeesh, Beena Suresh, Sheela Nampoothiri, Rajaiah Shenbagarathai, Sankaran Krishnaswamy and Periasamy Sundaresan
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Molecular characterization of Galactosemia in Iran: identification of Eleven mutations.
Research Article: J Genet Disor Genet Rep
DOI:
Mehrnoosh Moody
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Peutz-Jeghers Syndrome: Current State-of-the-Art.
Review Article: J Genet Disor Genet Rep
DOI:
Cipta Mahendra
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Endometrial Disease in Adults
Opinion Article: J Genet Disor Genet Rep
DOI:
Thomas Aldy
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Torment can be available in the Perineum
Perspective: J Genet Disor Genet Rep
DOI:
David Farooq
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Drawn out Pregnancy is Related with an Increment in Perinatal Horribleness during Child Birth
Opinion Article: J Genet Disor Genet Rep
DOI:
Laura Lewis
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How Menopause Causes Health Issues in Women after Pregnency
Commentary: J Genet Disor Genet Rep
DOI:
Lambrinoudaki Caty
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Thyroid Issues can be Difficult to Analyze in Pregnancy
Perspective: J Genet Disor Genet Rep
DOI:
Chan Li
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Chromosomal Abnormalities: Causes and Effects on Development
Perspective:
DOI:
Mustafa Gokhan Ertosun
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A Rare Familial Paracentric Inversion in the Long Arm of Chromosome 8: Case Report and Review of the Literature
Research Article: J Genet Disor Genet Rep, 6:2
DOI: 10.4172/2327-5790.1000152
Kouvidi E, Tsarouha H, Zachaki S, Mitrakos A, Sfakianoudis K, Kanavakis E, Mavrou A
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Homozygous Point Mutation in a Patient with Spinal Muscular Atrophy Type 1
Case Report: J Genet Disor Genet Rep 2016, 5:3
DOI: 10.4172/2327-5790.1000137
Isa Abdi Rad, Ali Vahabi and Ahad Ghazavi
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Investigation of the Origin of Common LDLR Mutation Alleles in New Zealand Familial Hypercholesterolemia Patients
Research Article: J Genet Disor Genet Rep, 7:1
DOI: 10.4172/2327-5790.1000167
Laurie AD, Spain RJ, Reid N and George PM
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Challenging Reproductive Genetic Counseling in Families at High Risk for Rare Genetic Syndromes â A Case Report with Possible Denys-Drash Syndrome
Case Report: J Genet Disor Genet Rep, 7:2
DOI: 10.4172/2327-5790.1000172
Hachmeriyan M, Andonova S, Levkova M, Stoyanova M, Kalchev K, Vasilev P, Miteva V, Tsvetkova M, Bradinova I and Angelova L
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Severe Expressive-Language Delay and Congenital Malformations in a Boy with Microduplication 7q11.23 Diagnosed by Molecular Cytogenetic Analysis
Research Article: J Genet Disor Genet Rep 2016, 5:1
DOI: 10.4172/2327-5790.1000127
Inesse Ben-Abdallah-Bouhjar, Amal Al Hashem, Samia Sobki, Brahim Tabarki, Yasser Hassen Babair and Hatem Elghezal
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Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management.
Research Article: J Genet Disor Genet Rep 2016, 5:2
DOI: 10.4172/2327-5790.1000132
Inusha Panigrahi, Jaswinder Kalra, Prasoon Goyad, Preeti Khetarpal and Anjana Munshi
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Treatment with Agalsidase Alfa during Pregnancy in a Heterozygous Female with Fabry Disease
Case Report: J Genet Disor Genet Rep, 5:4
DOI: 10.4172/2327-5790.1000143
Antonio Pisani, Giuseppe Bifulco, Attilio Di Spiezio Sardo and Eleonora Riccio
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A Rett Syndrome Case with Mutation in MECP2 and Deletion of 16p11.2
Case Report: J Genet Disor Genet Rep, 6:3
DOI: 10.4172/2327-5790.1000158
Bossolani-Martins AL, Moreira DP, Lourenço NCV, Magalhaes ML, Ribeiro CM, Griesi-Oliveira K and Fett-Conte AC
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Intergenerational De Novo Spinocerebellar Ataxia 7 CAG Enlargement in a Moroccan Family Detected by Triplet Primed PCR
Research Article: J Genet Disor Genet Rep, 6:4
DOI: 10.4172/2327-5790.1000163
Martínez-Laso J, Giménez-Pardo A Jimenez E, Gallego J, Cervera I, Ayuso C, Lorda I and Trujillo-Tiebas MJ
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Evidence that lithium Inhibits Export of N-Acetyl-L-Aspartate from Neurons: A Retrospective Study of Canavan Disease and Bipolar Disorder Patients
Research Article: J Genet Disor Genet Rep 2014, 3:1
DOI: 10.4172/2327-5790.1000110
Morris H Baslow and David N Guilfoyle
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Hereditary Thrombocytosis in 3 Kuwaiti Siblings with Homozygous MPL Pro106Leu Mutation and Abnormal Platelet Aggregation
Case Report: J Genet Disor Genet Rep 2013, 2:2
DOI: 10.4172/2327-5790.1000105
Preethi Reddy Marri, Salman Kirmani and Vilmarie Rodriguez
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Whole Exome Sequencing found a Novel Truncating Mutation within CNTNAP2 Gene in an Iranian Patient with Mental Retardation
Case Report: J Genet Disor Genet Rep, 7:3
DOI: 10.4172/2327-5790.1000177
Mehrnoosh Shokoohi, Mohammadreza Hajjari, Javad Mohammadiasl J and Maryam Tahmasebi Birgani MT
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Inherited Unbalanced Chromosome from Parent with Balanced Translocation: A Case Report and Review of Literature
Case Report: J Genet Disor Genet Rep 2016, 5:3
DOI: 10.4172/2327-5790.1000138
Kumari P, Mishra VV and Tewari S
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TLR4 and NOD2/CARD15 Polymorphisms and Their Association with Dietary Factors in Colorectal Cancer
Research Article: J Genet Disor Genet Rep, 7:1
DOI: 10.4172/2327-5790.1000168
Omrane I, Baroudi O, Medimegh I, Ayari H, Kourda N, Mezlini A and Benammar-Elgaaied A
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Phenylketonuria and Genetics
Review Article: J Genet Disor Genet Rep, 7:2
DOI: 10.4172/2327-5790.1000173
Ittan SP
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Screening of Genetic Mutations in GBA1, GIGYF2 and VPS35 in Parkinson Disease Patients from India
Research Article: J Genet Disor Genet Rep, 5:4
DOI: 10.4172/2327-5790.1000144
Tamali Halder, Janak Raj, Sharad Pandey, Ajay Kumar, Sagar Kawale, Sandeep Chaudhary, Vivek Sharma, Deepika Joshi and Parimal Das
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The Genomic Novel and Priority Mapping Tool: Using Empathic Design to Develop Innovative Patient-Centered Decision-Making Tools for the Genomic Testing Experience
Research Article: J Genet Disor Genet Rep 2016, 5:1
DOI: 10.4172/2327-5790.1000128
Kiley J Johnson, Kimberly A Schahl, Pamela S Sinicrope, Tammy M McAllister, Jennifer B McCormick, Leslie E Ruckman, Mekayla I Beaver and Noralane M Lindor
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Comprehensive Review of Rare Hereditary Autoinflammatory Disorders
Review Article: J Genet Disor Genet Rep 2013, 2:2
DOI: 10.4172/2327-5790.1000106
Nobuo Kanazawa
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The Interpretation of Genetic Data - Considering the Effect of Changes to Gene Conformation - If the Facts Donât Support the Theory, Change the Theory â How Does This Contribute to Understanding Diabetes?
Commentary: J Genet Disor Genet Rep, 6:4
DOI: 10.4172/2327-5790.1000164
Ewing GW
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Cerebellar Hypoplasıa as a Manıfestatıon of 6q25 Deletıon in a Preterm Newborn
Case Report: J Genet Disor Genet Rep, 7:3
DOI: 10.4172/2327-5790.1000178
Demırel G, Vatansever B, Karavar H, Gundogdu S, Ertan G and Tastekın A
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Resistance of Culex pipiens (Diptera: Culicidae) to Chlorpyrifos Insecticide in Central Tunisia
Research Article: J Genet Disor Genet Rep, 6:3
DOI: 10.4172/2327-5790.1000159
Jaber Daaboub, Ahmed Tabbabi, Raja Ben Cheikh, Ali Lamari, Ibtissem Ben Jha and Hassen Ben Cheikh
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Growth Abnormalities Resulting in Short Stature in Genetic Syndromes
Review Article: J Genet Disor Genet Rep 2014, 3:1
DOI: 10.4172/2327-5790.1000111
Lena Dain1 and Stavit A Shalev
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Pallister-Killian Syndrome: Undetected by Percutaneous Umbilical Blood Karyotyping and Neonatal Blood Microarray Comparative Genomic Hybridization
Research Article: J Genet Disor Genet Rep, 6:2
DOI: 10.4172/2327-5790.1000153
Huang MH, Yang IF, Lee C, Chang JS, Wang HC, Tou WS, Ling FC, Lai HL, Tsai LP and Ho SP
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A Case of Wolf-Hirschhorn Syndrome and Familial Mediterranean Fever
Case Report: J Genet Disor Genet Rep 2016, 5:2
DOI: 10.4172/2327-5790.1000133
Kazuaki Matsumoto* and Masayasu Ohta
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A case of Tuberous Sclerosis Complex Masquerading as Birt-Hogg-Dubé Syndrome
Case Report: J Genet Disor Genet Rep, 7:1
DOI: 10.4172/2327-5790.1000169
Kong YL, Oon HH, Choudhury Y, Tan MH and Ng SK
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A Rare Case of Isodicentric Xq28 that Causes Mental Retardation: Molecular Characterization and Review
Research Article: J Genet Disor Genet Rep, 6:2
DOI: 10.4172/2327-5790.1000154
Gonzalez C, Gutierrez M, Ruiz ML, Huete B, Gonzalez S, Gallego J and Cava F
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Are Antimullerian Hormone and its Receptor Genes Associated with Low Ovarian Response?
Research Article: J Genet Disor Genet Rep 2014, 3:1
DOI: 10.4172/2327-5790.1000112
Chelsi Goodman, Hosam Zaki, Larry Fischel, Hisham Greiss and Carolyn Coulam
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Evaluation of Genomic Evidence for Oxidative Stress in Experimental Radiation Nephropathy
Research Article: J Genet Disor Genet Rep 2013, 2:1
DOI: 10.4172/2327-5790.1000101
Eric P Cohen, Marek Lenarczyk, Brian L Fish, Shuang Jia, Martin J Hessner and John E Moulder
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Left Ventricular Noncompaction in Noonan Syndrome
Case Report: J Genet Disor Genet Rep 2016, 5:2
DOI: 10.4172/2327-5790.1000134
Robert B Hinton, Paula Goldenberg, Richard C Godby, Ashley Parrott, Amy G Shikany, Benjamin J Landis, Jeanne F James, Erin M Miller, Stephanie M Ware
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Hearing in Williams Syndrome: From Input to Processing
Review Article: J Genet Disor Genet Rep, 7:2
DOI: 10.4172/2327-5790.1000174
Fagundes Silva LA, Kim CA and Matas CG
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Anti-Ige (Omalizumab) Improved Trombotic Emboli by Elevating Activated Protein C, Protein S, and Antithrombin III in a Case of Prothrombin G20210A Mutation: Long Term Follow-Up
Letter to Editor: J Genet Disor Genet Rep 2016, 5:1
DOI: 10.4172/2327-5790.1000129
Arzu Didem Yalcin and Betul Celik
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Congenital Cerebral Ischemic Lesions in Monochorionic Twins
Case Report: J Genet Disor Genet Rep 2013, 2:2
DOI: 10.4172/2327-5790.1000107
Olajide Dolapo and Ravi Kudumula
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Rare Unusual Coincidence of LeriâWeill Dyschondrosteosis Resulting from a Downstream Enhancer Deletion of SHOX Gene and Neurofibromatosis Type 1
Case Report: J Genet Disor Genet Rep, 6:4
DOI: 10.4172/2327-5790.1000165
Peleg A, Adir V, Larom-Khan G, Harari Shaham A and Sagi-Dain L
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Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis
Research Article: J Genet Disor Genet Rep 2016, 5:3
DOI: 10.4172/2327-5790.1000139
Carolyn M Yrigollen, Laura Pacini, Veronica Nobile, Reymundo Lozano, Randi J Hagerman, Claudia Bagni and Flora Tassone
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Smith-Magenis Syndrome Treated with Ramelteon and Amphetamine-dextroamphetamine: Case Report and Review of the Literature
Case Report: J Genet Disor Genet Rep, 5:4
DOI: 10.4172/2327-5790.1000145
Baek WS, Elsea SH
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Non-Viral Vectors for Cystic Fibrosis Therapy: Recent Advances
Review Article: J Genet Disor Genet Rep, 7:3
DOI: 10.4172/2327-5790.1000179
Faisal Qaisar, Anum Habib, Noor Muhammad and Zia ur Rehman
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A New Case of Microdeletion 5q11.2 with Segmental 5q Isodisomy and Review of the Literature
Case Report: J Genet Disor Genet Rep, 6:3
DOI: 10.4172/2327-5790.1000160
Pecile V, Devescovi R, Cappellani S, Faletra F and Lenzini E
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Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe
Case Report: J Genet Disor Genet Rep 2013, 2:1
DOI: 10.4172/2327-5790.1000102
Alfonso Quint?s-Cardama and John J. McCarthy
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Same Mutation in Two Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) Coming from Different Municipalities in the Department of Cauca, Southwestern Colombia
Research Article: J Genet Disor Genet Rep, 5:4
DOI: 10.4172/2327-5790.1000146
Acosta MA, Lago RM, Barros F and Carracedo AM
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Lipoprotein Glomerulopathy: Molecular Characterization of Three Italian Patients and Literature Survey
Research Article: J Genet Disor Genet Rep 2014, 3:1
DOI: 10.4172/2327-5790.1000113
Antonio Pasquariello, Livia Pisciotta, Tiziana Sampietro, Giovanna Pasquariello, Pellegrino Masiello, Matilde Masini, Francesco Sbrana, Mariarita Puntoni, Roberto Miccoli, Sebastiano Calandra and Stefano Bertolini
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Association of HLA Typing with Nicotine Dependence by Extraction of Salivary DNA among Indian Population
Research Article: J Genet Disor Genet Rep, 7:1
DOI: 10.4172/2327-5790.1000170
Purohit A, Purohit BM, Mani A and Bhambal A
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Patterns of Utilization of Genetic Services Following the Initiation of Community based Primary Care Carrier Screening in a Traditional Muslim Community
Research Article: J Genet Disor Genet Rep, 7:2
DOI: 10.4172/2327-5790.1000175
Abu-Rabia R, Abo Rabia A, Birk O and Elana Shoham-Vardi
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Spectrum of CFTR Mutations in the Algerian Population: Molecular and Computational Analysis
Research Article: J Genet Disor Genet Rep 2016, 5:1
DOI: 10.4172/2327-5790.1000130
Fatima Zohra Sediki, Abdelkarim Radoui, Abdallah Boudjema, Meriem Abdi, Faouzia Zemani-Fodil, Nadhira Saidi-Mehtar and Faiza Cabet
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The Prevalence of Three Common MEFV Gene Mutations in West Bank Population among Students of Najah National University, Palestine
Research Article: J Genet Disor Genet Rep, 6:4
DOI: 10.4172/2327-5790.1000166
Tanbour RG, Sawafta TS and Basha WS
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Phenylketonuria (PKU) - What Next? Mini-Review
Review Article: J Genet Disor Genet Rep 2013, 2:2
DOI: 10.4172/2327-5790.1000108
WB Hanley
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Cerebrovascular and Brain Abnormalities in Autosomal- Dominant Polycystic Kidney Disease: Role of 3d Time-of-Flight Magnetic Resonance Angiography
Research Article: J Genet Disor Genet Rep 2016, 5:3
DOI: 10.4172/2327-5790.1000140
Carmela Russo, Ferdinando Caranci, Massimo Imbriaco, Manuela Napoli, Antonio Pisani, Eleonora Riccio, Michele Santangelo, Sirio Cocozza, Enrico Tedeschi, Francesco Briganti and Arturo Brunetti
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Atypical Hypotonia-Cystinuria a New Case: Genotype-Phenotype, Description
Case Report: J Genet Disor Genet Rep, 7:3
DOI: 10.4172/2327-5790.1000180
Preka Evgenia, Ariane Paoloni-Giacobino, Frédérique Sloan-Béna, Paloma Parvex and Alexandra Wilhelm-Bals
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Pirimiphos-methyl Resistance in Culex pipiens (Diptera: Culicidae) in Southern Tunisia
Research Article: J Genet Disor Genet Rep, 6:2
DOI: 10.4172/2327-5790.1000155
Tabbabi Ahmed, Daaboub Jaber, Laamari Ali, Ben Cheikh Raja and Ben Cheikh Hassen
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Variation of Abnormal Hemoglobins Concentrated in Durg, Chhattisgarh: A Brief Note Based on Cross-Sectional Study
Case Report: J Genet Disor Genet Rep 2016, 5:2
DOI: 10.4172/2327-5790.1000135
Devendra Lingojwar, Pramod Gupta, Savita Bhutoria, Sarita Lingojwar, Nikhil Mishra, Anil Kumar
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Chlorpyrifos Resistance Characteristics of Culex pipiens (Diptera: Culicidae) from Northern Tunisia
Research Article: J Genet Disor Genet Rep, 6:3
DOI: 10.4172/2327-5790.1000161
Jaber Daaboub, Ahmed Tabbabi, Ali Lamari, Mohamed Feriani, Chokri Boubaker and Hassen Ben Cheikh
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Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life
Review Article: J Genet Disor Genet Rep 2013, 2:1
DOI: 10.4172/2327-5790.1000103
Deborah A. Bruns
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Involvement of TLR4 Polymorphisms on Colorectal Cancer Treatment
Research Article: J Genet Disor Genet Rep, 7:1
DOI: 10.4172/2327-5790.1000171
Omrane I, Baroudi O, Medimegh I, Ayari H, Kourda N, Mezlini A, Bougatef K and Benammar-Elgaaied A
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Advances of Programmed Death-1/Programmed Death-1 Ligand Signal Pathway and its Blockers in Nasopharyngeal Carcinoma
Review Article: J Genet Disor Genet Rep, 7:2
DOI: 10.4172/2327-5790.1000176
Zhou Q, Assani G, Ling H, Xiong Y and Zhou Y
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Telomeres in Cancer: Length, Positioning and Epigenetics
Review Article: J Genet Disor Genet Rep 2016, 5:1
DOI: 10.4172/2327-5790.1000131
Patel TN, Sulekha R Nair, Lekshmi Mohan, Fahmina Y, Ashwini, Devi S and VA Saimadhukiran Dabbiru
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Expression of TCTP-Related Genes
Research Article: J Genet Disor Genet Rep, 6:2
DOI: 10.4172/2327-5790.1000156
Jun-ichi Kashiwakura and Toshiaki Kawakami
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Genotype and Allele Frequencies of Calcium-Sensing Receptor Gene a986s (rs1801725) Polymorphism in Saudi Adults
Research Article: J Genet Disor Genet Rep 2016, 5:3
DOI: 10.4172/2327-5790.1000141
Sonbol HS and Al Otaibi WF
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Genotype-phenotype characteristics of β thalassemia children in the Gaza Strip, Palestine
Research Article: J Genet Disor Genet Rep 2013, 2:2
DOI: 10.4172/2327-5790.1000109
Maged M Yassin, Mahmoud M Sirdah, Rami M Al Haddad, Abdel-Monem H. Lubbad and Mansour S Al-Yazji
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Cleidocranial Dysplasia in a Mother and her New-born Daughter
Case Report: J Genet Disor Genet Rep 2016, 5:2
DOI: 10.4172/2327-5790.1000136
Ma?gorzata Napieralska, Aleksandra Modlinska, Tomasz Rybkiewicz, Regina ?uralska
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Parental Consanguinity and Birth Defects in Lebanon: The National Collaborative Perinatal Neonatal Network (NCPNN)
Research Article: J Genet Disor Genet Rep, 7:3
DOI: 10.4172/2327-5790.1000181
Farra C, El Rafei R, Mumtaz G, Charafeddine L, Tlays F and Yunis K
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Morbid Obesity and Psychiatric Disorders Hiding a Sex Aneuploidy: A Case of Late Diagnosis of 48,XXYY Syndrome
Case Report: J Genet Disor Genet Rep, 6:3
DOI: 10.4172/2327-5790.1000162
Antía Fernández-Pombo, Pablo San Millán-Tejedor, Cristina Guillín-Amarelle, Ana I. Castro, Juan Carlos Guinarte-Cabada, Margarita Ventura-Victoria and David Araújo-Vilar
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Evaluation of Fenitrothion against Culex pipiens (Diptera: Culicidae) Larvae in Grand Tunis Area of Tunisia
Research Article: J Genet Disor Genet Rep, 6:2
DOI: 10.4172/2327-5790.1000157
Ahmed Tabbabi, Jaber Daaboub, Ali Lamari, Raja Ben Cheikh, Ibtissem Ben Jha and Hassen Ben Cheikh
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Mini Review: HLA B27 and its Immunogenetics in Ankylosing Spondylitis
Review Article: J Genet Disor Genet Rep 2013, 2:1
DOI: 10.4172/2327-5790.1000104
Hamid Nawaz Tipu