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Mutation detection

Optimization of a Low Cost and Broadly Sensitive Genotyping Assay for HIV-1 Drug Resistance Surveillance and Monitoring in Resource-Limited Settings

Zhiyong Zhou, Nick Wagar, [ ... ], Chunfu Yang

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

Laurie H. Seaver, Xue-Ying He, [ ... ], Song-Yu Yang

A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II

Jun Zhang, Jiucun Wang, [ ... ], Jie Liu

Can Linear Regression Modeling Help Clinicians in the Interpretation of Genotypic Resistance Data? An Application to Derive a Lopinavir-Score

Alessandro Cozzi-Lepri, Mattia C. F. Prosperi, [ ... ], for the EuroSIDA and the United Kingdom CHIC/United Kingdom HDRD Studies

Molecular Evolution of HIV-1 CRF01_AE Env in Thai Patients

Samatchaya Boonchawalit, Duangrat Jullaksorn, [ ... ], Masanori Kameoka

Development and Inter-Laboratory Validation of Unlabeled Probe Melting Curve Analysis for Detection of JAK2 V617F Mutation in Polycythemia Vera

Zhiyuan Wu, Hong Yuan, [ ... ], Ming Guan

Improving a Natural CaMKII Inhibitor by Random and Rational Design

Steven J. Coultrap, K. Ulrich Bayer

First-Step Mutations for Adaptation at Elevated Temperature Increase Capsid Stability in a Virus

Kuo Hao Lee, Craig R. Miller, [ ... ], F. Marty Ytreberg

Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, [ ... ], Surendra Kumar Bansal

Polymorphism in Gag Gene Cleavage Sites of HIV-1 Non-B Subtype and Virological Outcome of a First-Line Lopinavir/Ritonavir Single Drug Regimen

Jade Ghosn, Constance Delaugerre, [ ... ], Marie-Laure Chaix

Screening for EGFR and KRAS Mutations in Endobronchial Ultrasound Derived Transbronchial Needle Aspirates in Non-Small Cell Lung Cancer Using COLD-PCR

George Santis, Roger Angell, [ ... ], Khalid Tobal

Variants of OTOF and PJVK Genes in Chinese Patients with Auditory Neuropathy Spectrum Disorder

Wang Jian, Fan Ying-ying, [ ... ], Qiu Jian-hua

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

Tom J. Vulliamy, Michael J. Kirwan, [ ... ], Inderjeet Dokal

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