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Mutation

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, [ ... ], Jianshe Wang

Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer

Shiro Fujita, Katsuhiro Masago, [ ... ], Yukio Hirata

Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations

Lydia Chang, Mervyn J. Monteiro

Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, [ ... ], Stergios J. Moschos

Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer

Balananda-Dhurjati Kumar Putcha, Xu Jia, [ ... ], Upender Manne

Dynamics of the Peripheral Membrane Protein P2 from Human Myelin Measured by Neutron Scattering—A Comparison between Wild-Type Protein and a Hinge Mutant

Saara Laulumaa, Tuomo Nieminen, [ ... ], Francesca Natali

Expected Shannon Entropy and Shannon Differentiation between Subpopulations for Neutral Genes under the Finite Island Model

Anne Chao, Lou Jost, [ ... ], Lee Ann Rollins

Sequence Polymorphism of Cytochrome b Gene in Theileria annulata Tunisian Isolates and Its Association with Buparvaquone Treatment Failure

Moez Mhadhbi, Melek Chaouch, [ ... ], Souha BenAbderrazak

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals

Shasha Huang, Bangqing Huang, [ ... ], Pu Dai

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

Céline Augière, Simon Mégy, [ ... ], Patrice Bouvagnet

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population

So Young Kim, Ah Reum Kim, [ ... ], Byung Yoon Choi

Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome

Abram Bunya Kamiza, Ling-Ling Hsieh, [ ... ], Chih-Ching Yeh

Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing

Claudia Vollbrecht, Fabian Dominik Mairinger, [ ... ], Reinhard Buettner

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