Publications

• Young Researchers Forum: Young Scientist Awards for System Biology 2020

  Young Research Forum: J Genet Disor Genet Rep
  DOI:
  Gottfried Baier
  
  • Full-text
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• Market Analysis of Glycobiology and Glycochemistry 2020

  Market Analysis: J Genet Disor Genet Rep
  DOI:
  Dr. Alireza Heidari
  
  • Full-text
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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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• Association Study of IVS8TGmTn Polymorphism and Cystic Fibrosis Disease in a Tunisian Population

  Research Article: J Genet Disor Genet Rep, 6:1
  DOI: 10.4172/2327-5790.1000147
  Sahli Chaima, Hadj Fredj Sondess, Dabboubi Rym, Bousseta Khedija, Mehrzi Ahmed, Messaoud Taieb
  
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• Neurocognitive Functioning in a Young Female with Weaver Syndrome

  Case Report: J Genet Disor Genet Rep, 6:1
  DOI: 10.4172/2327-5790.1000148
  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

  Research Article: J Genet Disor Genet Rep
  DOI:
  Anjali Aryamvally, Anwayee Das, Kriti Menon, Santhanam Rekha, Suman Jain, et al.
  
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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
  DOI: 10.4172/2327-5790.1000142
  Mirea AM, Popp RA, Lazea C, Cuzmici Z, Al Khzouz C, Bucerzan S, Nascu, Man S, Iurian S, Miclea DL
  
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• Young Scientist Awards at Genome Editing 2020 for the Best Researches in Genome Editing and Gene Therapy

  Young Research Forum:
  DOI:
  William J. Rowe
  
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• Market Analysis of Genome Editing and Gene Therapy

  Market Analysis: J Genet Disor Genet Rep
  DOI:
  William J. Rowe
  
  • Full-text
  • PDF

• Aging: A Little (Oxidative) Stress is Good for You

  Commentary: J Genet Disor Genet Rep
  DOI:
  Terrance J. Kubiseski
  
  • Abstract
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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
  DOI:
  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:
  William J. Rowe
  
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• Evaluation of the Progression of Hybridoma Technology: Methods, Applications, Advantages and Drawbacks

  Review Article: J Genet Disor Genet Rep
  DOI:
  Achim Cchitvsanzwhoh Satheka and Adhanom Mihretab Tesfamariam 
  
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• A Turner Patient Presenting Dicentric Ring X-Chromosome and Intellectual Disability

  Research Article: J Genet Disor Genet Rep
  DOI:
  Bhavani G, Chandra R Samuel and Santhiya ST
  
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• Novel Homozygous Variant of TBC1D8 Gene in Four Libyan Siblings with Autistic Spectrum Disorder and Intellectual Disability without Epilepsy

  Research Article: J Genet Disor Genet Rep
  DOI:
  Adel Zeglam and Suad Alhmadi
  
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• Fetuin A Concentration in the Amniotic Fluid of Fetuses with Down Syndrome

  Research Article: J Genet Disor Genet Rep 2014, 4:1
  DOI: 10.4172/2327-5790.1000118
  Salih Burcin Kavak, Ebru Celik Kavak,Askin Sen, Rasit Ilhan, Murat Kaya, Ekrem Sapmaz, ozgur Arat, Sel?uk Kaplan and Melike Baspinar
  
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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
  Pawel T Pomianowski, Daniel Dykas, Murim Choi, Jingshing Wu, Gregory A Kuzmik, Dawn Ardito, Sandip Mukherjee and John A Elefteriades
  
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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
  Ottaviani Daniela, Parma Diana, Ferrer Marcela, Giliberto Florencia, Luce Leonela, Alonso Cristina and Szijan Irene
  
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• Market Analysis of Glycobiology and Glycochemistry 2020

  Market Analysis: J Genet Disor Genet Rep
  DOI:
  Alireza Heidari
  
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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
  DOI: 10.4172/2327-5790.1000121
  Jehangir Khan, Arshad Ali, Bakht Tarin Khan , Zaheer Ahmad and Waqas Ahmad Shams
  
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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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• 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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• 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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• Genetic Networks in Heterogeneous Populations

  Editorial: J Genet Disor Genet Rep 2012, 1:1
  DOI: 10.4172/2327-5790.1000e104
  Mogen Fenger
  
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• Modeling the Novel Gene in Zebra Fish: EXD2 (Exonuclease 3'-5' Domain Containing 2)

  Research Article: J Genet Disor Genet Rep
  DOI:
  Shamsa Hilal Anzi, Hayfa Alrasheed, Maher M. Alsaif, Mohammed A. Aldahmesh
  
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• Endometriosis and Infertility

  Special Issue Article: J Genit Syst Disord 2020
  DOI:
  
  
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• Endometriosis and Infertility

  Special Issue Article: J Genit Syst Disord 2020
  DOI:
  

  Mohammad Ebrahim Parsanezhad
  

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• Genetic Disorders and Genetic Reports

  Editorial: J Genet Disor Genet Rep
  DOI:
  Yanmin Yang
  
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• Review on polycystic ovary syndrome, clinical manifestations, diagnostic

  Special Issue Article: J Genit Syst Disord 2020
  DOI:
  Priyanga Poomani
  
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• Mutation: The Key to Our Evolution

  Editorial: J Genet Disor Genet Rep
  DOI:
  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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• Prevalence and correlates of female sexual dysfunctions- A pilotstudyfromBahrain

  Special Issue Article: J Genit Syst Disord 2020
  DOI:
  Rizk Dee
  
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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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• 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
  
  • Abstract
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• Market Analysis of Genome Editing and Gene Therapy

  Market Analysis: J Genet Disor Genet Rep
  DOI:
  William J. Rowe
  
  • Abstract
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• Advancement in Gene Therapy and Genome Editing

  Editorial: J Genet Disor Genet Rep
  DOI:
  Yanmin Yang
  
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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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• 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 “Global” 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
  
  • Abstract
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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
  
  • Abstract
  • Full-text
  • PDF

• Aging: A Little (Oxidative) Stress is Good for You

  Commentary: J Genet Disor Genet Rep
  DOI:
  Terrance J. Kubisesk
  
  • Abstract
  • Full-text
  • PDF

• 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
  
  • Abstract
  • Full-text
  • PDF

• Mutation: The Key to Our Evolution

  Editorial: J Genet Disor Genet Rep
  DOI:
  Rajinder Kaul
  
  • Abstract
  • Full-text
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• Young Researchers Forum: Young Scientist Awards for Genetics 2020

  Young Research Forum: J Genet Disor Genet Rep
  DOI:
  Gail Risbridge 
  
  • Full-text
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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
  
  • Full-text
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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 – 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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• 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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• Market Analysis of Genome Editing and Gene Therapy

  Market Analysis: J Genet Disor Genet Rep
  DOI:
  William J. Rowe 
  
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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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• 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
  
  • Abstract
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  • Supplementary File

• 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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• 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 – 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 Don’t Support the Theory, Change the Theory – 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 Leri–Weill 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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  • Supplementary File

• 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
  
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