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Mutation detection

Classification of Epidermal Growth Factor Receptor Gene Mutation Status Using Serum Proteomic Profiling Predicts Tumor Response in Patients with Stage IIIB or IV Non-Small-Cell Lung Cancer

Lin Yang, Chuanhao Tang, [ ... ], Xiaoqing Liu

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

Jing Zheng, Zhengbiao Ying, [ ... ], Min-Xin Guan

Expression and New Exon Mutations of the Human Beta Defensins and Their Association on Colon Cancer Development

Abdelhabib Semlali, Abdullah Al Amri, [ ... ], Mohammad S. Alanazi

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

Direct Detection by the Xpert MTB/RIF Assay and Characterization of Multi and Poly Drug-Resistant Tuberculosis in Guinea-Bissau, West Africa

Paulo Rabna, Jorge Ramos, [ ... ], Miguel Viveiros

Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss

Ying Chen, Zhentao Wang, [ ... ], Hao Wu

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

Altered HLA Class I Profile Associated with Type A/D Nucleophosmin Mutation Points to Possible Anti-Nucleophosmin Immune Response in Acute Myeloid Leukemia

Kateřina Kuželová, Barbora Brodská, [ ... ], Petr Cetkovský

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil

Mônica Barbosa de Melo, Anil K. Mandal, [ ... ], Subhabrata Chakrabarti

Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever

Michio Yasunami, Hitomi Nakamura, [ ... ], Kiyoshi Migita

Transmitted Drug Resistance Mutations in Antiretroviral-Naïve Injection Drug Users with Chronic HIV-1 Infection in Iran

Arash Memarnejadian, Shahoo Menbari, [ ... ], Mohammad Abdi

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