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Mutation databases

Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

Yu Zhou, Siyu Tao, [ ... ], Xianjun Zhu

CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients

Ewa Ziętkiewicz, Ewa Rutkiewicz, [ ... ], Michał Witt

Comprehensive Detection of Genes Causing a Phenotype Using Phenotype Sequencing and Pathway Analysis

Marc Harper, Luisa Gronenberg, James Liao, Christopher Lee

Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools

Lucie Grodecká, Pavla Lockerová, [ ... ], Tomáš Freiberger

FBXW7 Mutations in Patients with Advanced Cancers: Clinical and Molecular Characteristics and Outcomes with mTOR Inhibitors

Denis L. Jardim, Jennifer J. Wheler, [ ... ], David S. Hong

Characteristics of HIV-1 Natural Drug Resistance-Associated Mutations in Former Paid Blood Donors in Henan Province, China

Yi Bao, Di Tian, [ ... ], Xiao-Yuan Xu

Zinc Mono-Therapy in Pre-Symptomatic Chinese Children with Wilson Disease: A Single Center, Retrospective Study

Kuerbanjiang Abuduxikuer, Jian-She Wang

Identification of Mutations in the PYRIN-Containing NLR Genes (NLRP) in Head and Neck Squamous Cell Carcinoma

Yu Lei, Vivian W. Y. Lui, Jennifer R. Grandis, Ann Marie Egloff

Deriving a Mutation Index of Carcinogenicity Using Protein Structure and Protein Interfaces

Octavio Espinosa, Konstantinos Mitsopoulos, [ ... ], Marketa Zvelebil

Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

Johanna Winberg, Peter Gustavsson, [ ... ], Agneta Nordenskjöld

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Marika Pane, Elena S. Mazzone, [ ... ], Eugenio Mercuri

The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Azra Fatima, Shao Kaifeng, [ ... ], Tomo Šarić

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, [ ... ], Lenka Fajkusová

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