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Mutation detection

Detection of BRAF V600 Mutations in Melanoma: Evaluation of Concordance between the Cobas® 4800 BRAF V600 Mutation Test and the Methods Used in French National Cancer Institute (INCa) Platforms in a Real-Life Setting

Samia Mourah, Marc G. Denis, [ ... ], Jean-Philippe Merlio

Large Cohort Screening of G6PD Deficiency and the Mutational Spectrum in the Dongguan District in Southern China

Qi Peng, Siping Li, [ ... ], Xiaomei Lu

Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

Xin Wang, Yuming Zhao, Yuan Yang, Man Qin

Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma

Mieke Versluis, Mark J. de Lange, [ ... ], Pieter A. van der Velden

Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up

Haihua Zhang, Lifang Dai, [ ... ], Ye Wu

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

Anna Duarri, Esther A. R. Nibbeling, [ ... ], Dineke S. Verbeek

Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han

The Use of a Two-Tiered Testing Strategy for the Simultaneous Detection of Small EGFR Mutations and EGFR Amplification in Lung Cancer

Marzena Anna Lewandowska, Karol Czubak, [ ... ], Piotr Kozlowski

CHOPER Filters Enable Rare Mutation Detection in Complex Mutagenesis Populations by Next-Generation Sequencing

Faezeh Salehi, Roberta Baronio, [ ... ], Richard H. Lathrop

Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

Xuefu Li, Bomeng Zhong, [ ... ], Miao Jiang

Performance of an In-House Human Immunodeficiency Virus Type 1 Genotyping System for Assessment of Drug Resistance in Cuba

Yoan Alemán, Lore Vinken, [ ... ], Kristel Van Laethem

High Prevalence of the K65R Mutation in HIV-1 Subtype C Infected Patients Failing Tenofovir-Based First-Line Regimens in South Africa

Lindiwe Skhosana, Kim Steegen, [ ... ], Wendy S. Stevens

Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Waed Btadini, Ossama K. Abou Hassan, [ ... ], Mazen Kurban

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