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Mutation detection

High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

Zeynep Kalender Atak, Kim De Keersmaecker, [ ... ], Stein Aerts

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Eva Müller, Desiree Dunstheimer, [ ... ], Peter H. Heidemann

BRCA2 Mutations and Triple-Negative Breast Cancer

Peter Meyer, Katharina Landgraf, [ ... ], Beyhan Ataseven

Improved Somatic Mutagenesis in Zebrafish Using Transcription Activator-Like Effector Nucleases (TALENs)

Finola E. Moore, Deepak Reyon, [ ... ], David M. Langenau

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Masaki Takagi, Tomohiro Ishii, [ ... ], Tomonobu Hasegawa

KRAS, BRAF and PIK3CA Mutations and the Loss of PTEN Expression in Chinese Patients with Colorectal Cancer

Chen Mao, Junhua Zhou, [ ... ], Qing Chen

Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

Kai Hang Yiu, Douwe E. Atsma, [ ... ], Nina Ajmone Marsan

Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data

Eric Letouzé, Aliou Sow, [ ... ], Aurélien de Reyniès

Allele Specific Locked Nucleic Acid Quantitative PCR (ASLNAqPCR): An Accurate and Cost-Effective Assay to Diagnose and Quantify KRAS and BRAF Mutation

Luca Morandi, Dario de Biase, [ ... ], Giovanni Tallini

Amyloid-Beta (Aβ) D7H Mutation Increases Oligomeric Aβ42 and Alters Properties of Aβ-Zinc/Copper Assemblies

Wei-Ting Chen, Chen-Jee Hong, [ ... ], Irene H. Cheng

Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population

Liang Tang, Tao Guo, [ ... ], Yu Hu

Analysis of Tp53 Codon 72 Polymorphisms, Tp53 Mutations, and HPV Infection in Cutaneous Squamous Cell Carcinomas

Keith R. Loeb, Maryam M. Asgari, [ ... ], Nancy B. Kiviat

Transmission and Selection of Macrolide Resistant Mycoplasma genitalium Infections Detected by Rapid High Resolution Melt Analysis

Jimmy Twin, Jorgen S. Jensen, [ ... ], Sepehr N. Tabrizi

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