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Mutation detection

High Throughput Interrogation of Somatic Mutations in High Grade Serous Cancer of the Ovary

Ursula A. Matulonis, Michelle Hirsch, [ ... ], William C. Hahn

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

Macarena Ruiz-Ferrer, Ana Torroglosa, [ ... ], Salud Borrego

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Huiwen Zhang, Jing Li, [ ... ], Xuefan Gu

Optimal Codon Identities in Bacteria: Implications from the Conflicting Results of Two Different Methods

Bin Wang, Zhu-Qing Shao, [ ... ], Jian-Qun Chen

Measuring Enzymatic HIV-1 Susceptibility to Two Reverse Transcriptase Inhibitors as a Rapid and Simple Approach to HIV-1 Drug-Resistance Testing

Dieter Hoffmann, Albert D. Garcia, [ ... ], Walid Heneine

Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center

Chen-Chi Wu, Chia-Cheng Hung, [ ... ], Chuan-Jen Hsu

Reappearance of Minority K103N HIV-1 Variants after Interruption of ART Initiated during Primary HIV-1 Infection

Karin J. Metzner, Christine Leemann, [ ... ], Huldrych F. Guenthard

Minor HIV-1 Variants with the K103N Resistance Mutation during Intermittent Efavirenz-Containing Antiretroviral Therapy and Virological Failure

Pierre Delobel, Adrien Saliou, [ ... ], ANRS 106-Window Study Team

Rapid Detection of the H275Y Oseltamivir Resistance Mutation in Influenza A/H1N1 2009 by Single Base Pair RT-PCR and High-Resolution Melting

Steven Y. C. Tong, Farshid Dakh, [ ... ], Philip M. Giffard

Emergence and Persistence of Minor Drug-Resistant HIV-1 Variants in Ugandan Women after Nevirapine Single-Dose Prophylaxis

Andrea Hauser, Kizito Mugenyi, [ ... ], Andrea Kunz

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Christa E. Flück, Amit V. Pandey, [ ... ], Laura Audi

Added Value of Deep Sequencing Relative to Population Sequencing in Heavily Pre-Treated HIV-1-Infected Subjects

Francisco M. Codoñer, Christian Pou, [ ... ], Roger Paredes

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, [ ... ], J. Fielding Hejtmancik

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