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Missense mutation

R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL

Kheng-Seang Lim, Ai-Huey Tan, [ ... ], Ching-Ching Ng

A Novel Mutation of DAX-1 Associated with Secretory Azoospermia

Lisha Mou, Nie Xie, [ ... ], Yaoting Gui

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Ferdos Alaa el Din, Sylvie Patri, [ ... ], Alain Kitzis

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, [ ... ], Zhaoxin Ma

Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome

Adam G. W. Matthews, Christine E. Briggs, [ ... ], Manish J. Butte

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, [ ... ], Ian N. M. Day

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Susanne Pitz, Gisela Kalkum, [ ... ], Andreas Gal

Crystal and EM Structures of Human Phosphoribosyl Pyrophosphate Synthase I (PRS1) Provide Novel Insights into the Disease-Associated Mutations

Peng Chen, Zheng Liu, [ ... ], Xu Li

Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia

Suriati Mohamad, Nurismah Md Isa, [ ... ], Sharifah Noor Akmal

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, [ ... ], Jiansheng Xie

Resequencing and Association Analysis of PTPRA, a Possible Susceptibility Gene for Schizophrenia and Autism Spectrum Disorders

Jingrui Xing, Chenyao Wang, [ ... ], Norio Ozaki

Rational Design of Small-Molecule Stabilizers of Spermine Synthase Dimer by Virtual Screening and Free Energy-Based Approach

Zhe Zhang, Virginie Martiny, [ ... ], Maria A. Miteva

New Starch Phenotypes Produced by TILLING in Barley

Francesca Sparla, Giuseppe Falini, [ ... ], Paolo Trost

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