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Mutation detection

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, [ ... ], Ping Wang

Differential In Vitro Kinetics of Drug Resistance Mutation Acquisition in HIV-1 RT of Subtypes B and C

Rodrigo D. Cunha, Celina M. Abreu, [ ... ], Amilcar Tanuri

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

Comparison of 454 Ultra-Deep Sequencing and Allele-Specific Real-Time PCR with Regard to the Detection of Emerging Drug-Resistant Minor HIV-1 Variants after Antiretroviral Prophylaxis for Vertical Transmission

Andrea Hauser, Claudia Kuecherer, [ ... ], Karolin Meixenberger

Detection of K-ras Mutations in Predicting Efficacy of Epidermal Growth Factor Receptor Tyrosine Kinase (EGFR-TK) Inhibitor in Patients with Metastatic Colorectal Cancer

Ze Li, Xue-Wei Liu, [ ... ], Long-Wei Cheng

BRAF-V600 Mutations Have No Prognostic Impact in Stage IV Melanoma Patients Treated with Monochemotherapy

Diana Meckbach, Ulrike Keim, [ ... ], Benjamin Weide

Impact of Pulmonary Arteriovenous Malformations on Respiratory–Related Quality of Life in Patients with Hereditary Haemorrhagic Telangiectasia

Sandra Blivet, Daniel Cobarzan, [ ... ], Thierry Chinet

A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss

Yalan Liu, Chang Hu, [ ... ], Yong Feng

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, [ ... ], Bing-Wen Soong

CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting

Kelly Lim, Winnie L. Kan, [ ... ], Daniel Thomas

Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations

Jargalkhuu Erdenechuluun, Yin-Hung Lin, [ ... ], Chen-Chi Wu

A pilot study: VereMTB detection kit for rapid detection of multidrug-resistant mycobcterium tuberculosis in clinical sputum samples

Xichao Ou, Qiang Li, [ ... ], Yanlin Zhao

Food insecurity, drug resistance and non-disclosure are associated with virologic non-suppression among HIV pregnant women on antiretroviral treatment

Bhavna H. Chohan, Keshet Ronen, [ ... ], Grace John-Stewart

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