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Mutation detection

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Behzad Davarniya, Hao Hu, [ ... ], Hossein Najmabadi

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

Laura L. Kilarski, Loes C. A. Rutten-Jacobs, [ ... ], UK Young Lacunar Stroke DNA Study

Single-Cell Genetic Analysis Using Automated Microfluidics to Resolve Somatic Mosaicism

Keith E. Szulwach, Peilin Chen, [ ... ], Ramesh Ramakrishnan

Creation of Mice Bearing a Partial Duplication of HPRT Gene Marked with a GFP Gene and Detection of Revertant Cells In Situ as GFP-Positive Somatic Cells

Asao Noda, Hirofumi Suemori, [ ... ], Nori Nakamura

Emergence of Lamivudine-Resistant HBV during Antiretroviral Therapy Including Lamivudine for Patients Coinfected with HIV and HBV in China

Lijun Gu, Yang Han, [ ... ], Takaomi Ishida

CRISPR/Cas9-Mediated Genome Editing in Soybean Hairy Roots

Yupeng Cai, Li Chen, [ ... ], Wensheng Hou

Parkinson’s Disease in Saudi Patients: A Genetic Study

Bashayer R. Al-Mubarak, Saeed A. Bohlega, [ ... ], Nada A. Al Tassan

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Yanqiu Liu, Xiaoming Wei, [ ... ], Yun Yang

Individual Substitution Mutations in the AID C Terminus That Ablate IgH Class Switch Recombination

Tatenda Kadungure, Anna J. Ucher, [ ... ], Janet Stavnezer

Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China

Yi Jiang, Shasha Huang, [ ... ], Pu Dai

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

Yi-Chu Liao, Yo-Tsen Liu, [ ... ], Yi-Chung Lee

Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border

Qing Li, Fang Yang, [ ... ], Yongshu He

Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population

Edward S. Y. Wong, Sandhya Shekar, [ ... ], Ann S. G. Lee

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