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Mutation detection

Routine Multiplex Mutational Profiling of Melanomas Enables Enrollment in Genotype-Driven Therapeutic Trials

Christine M. Lovly, Kimberly Brown Dahlman, [ ... ], William Pao

Mitochondrial Diabetes in Children: Seek and You Will Find It

Cristina Mazzaccara, Dario Iafusco, [ ... ], Lucia Sacchetti

Dynamics of Hepatitis B Virus Quasispecies in Association with Nucleos(t)ide Analogue Treatment Determined by Ultra-Deep Sequencing

Norihiro Nishijima, Hiroyuki Marusawa, [ ... ], Tsutomu Chiba

B-RAF Mutant Alleles Associated with Langerhans Cell Histiocytosis, a Granulomatous Pediatric Disease

Takeshi Satoh, Alexander Smith, [ ... ], Frederic Geissmann

HIV-1 Phenotypic Reverse Transcriptase Inhibitor Drug Resistance Test Interpretation Is Not Dependent on the Subtype of the Virus Backbone

Michelle Bronze, Kim Steegen, [ ... ], on behalf of the ART-A Consortium

Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia

Lucia Valentínová, Nicola L. Beer, [ ... ], Anna L. Gloyn

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, [ ... ], Laura Bannach Jardim

Evaluation of Genetic Mutations Associated with Mycobacterium tuberculosis Resistance to Amikacin, Kanamycin and Capreomycin: A Systematic Review

Sophia B. Georghiou, Marisa Magana, [ ... ], Timothy C. Rodwell

Sequence Variations of Latent Membrane Protein 2A in Epstein-Barr Virus-Associated Gastric Carcinomas from Guangzhou, Southern China

Jing Han, Jian-ning Chen, [ ... ], Chun-kui Shao

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

Ewa Ziętkiewicz, Zuzanna Bukowy-Bieryłło, [ ... ], Michał Witt

Virologic Failure of Protease Inhibitor-Based Second-Line Antiretroviral Therapy without Resistance in a Large HIV Treatment Program in South Africa

Julie H. Levison, Catherine Orrell, [ ... ], Robin Wood

Detection of PIGO-Deficient Cells Using Proaerolysin: A Valuable Tool to Investigate Mechanisms of Mutagenesis in the DT40 Cell System

Jun Nakamura, Husamettin Gul, [ ... ], James A. Swenberg

A Highly Sensitive Quantitative Real-Time PCR Assay for Determination of Mutant JAK2 Exon 12 Allele Burden

Lasse Kjær, Maj Westman, [ ... ], Hans Hasselbalch

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