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Mutation databases

Association between MEFV Mutations M694V and M680I and Behçet’s Disease: A Meta-Analysis

Ziyan Wu, Shulan Zhang, [ ... ], Yongzhe Li

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes

Daichi Shigemizu, Takeshi Aiba, [ ... ], Toshihiro Tanaka

Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis

Joo Hyung Han, Seung Kim, [ ... ], Ji Hyun Lee

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, [ ... ], Edgar A. Otto

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, [ ... ], Jianshe Wang

Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, [ ... ], Stergios J. Moschos

Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing

Claudia Vollbrecht, Fabian Dominik Mairinger, [ ... ], Reinhard Buettner

BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk

Fabrice Kwiatkowski, Marie Arbre, [ ... ], Yves-Jean Bignon

Trends in Transmission of Drug Resistance and Prevalence of Non-B Subtypes in Patients with Acute or Recent HIV-1 Infection in Barcelona in the Last 16 Years (1997-2012)

Juan Ambrosioni, Omar Sued, [ ... ], José María Miró

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

Xiangjun Huang, Xiong Deng, [ ... ], Hao Deng

Mitochondrial Mutations in Subjects with Psychiatric Disorders

Adolfo Sequeira, Brandi Rollins, [ ... ], Marquis P. Vawter

Epidemiological Surveillance of HIV-1 Transmitted Drug Resistance in Spain in 2004-2012: Relevance of Transmission Clusters in the Propagation of Resistance Mutations

Yolanda Vega, Elena Delgado, [ ... ], Spanish Group for the Study of New HIV-1 Diagnoses in Galicia and Basque Country

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Louis Viollet, Gustavo Glusman, [ ... ], Kathryn J. Swoboda

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