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Mutation detection

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, [ ... ], Ping Wang

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, [ ... ], Chiea Chuen Khor

Novel KRAS Gene Mutations in Sporadic Colorectal Cancer

Walid M. Naser, Mohamed A. Shawarby, [ ... ], Omar M. E. Albagha

Frequency and Fitness Consequences of Bacteriophage Φ6 Host Range Mutations

Brian E. Ford, Bruce Sun, [ ... ], John J. Dennehy

RADIA: RNA and DNA Integrated Analysis for Somatic Mutation Detection

Amie J. Radenbaugh, Singer Ma, [ ... ], David Haussler

Quantification and Dynamic Monitoring of EGFR T790M in Plasma Cell-Free DNA by Digital PCR for Prognosis of EGFR-TKI Treatment in Advanced NSCLC

Zhijie Wang, Rui Chen, [ ... ], Jie Wang

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Stefania Zampieri, Ezio Bianchi, [ ... ], Andrea Dardis

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Alireza Haghighi, Amit Tiwari, [ ... ], Wolfgang Berger

Resequencing and Association Analysis of PTPRA, a Possible Susceptibility Gene for Schizophrenia and Autism Spectrum Disorders

Jingrui Xing, Chenyao Wang, [ ... ], Norio Ozaki

First TILLING Platform in Cucurbita pepo: A New Mutant Resource for Gene Function and Crop Improvement

Nelly Vicente-Dólera, Christelle Troadec, [ ... ], Pedro Gómez

SNaPshot Assay for the Detection of the Most Common CFTR Mutations in Infertile Men

Predrag Noveski, Svetlana Madjunkova, [ ... ], Dijana Plaseska-Karanfilska

A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

Guoyan Mo, Qin Ding, [ ... ], Guohua Yin

High-Throughput Sequencing and Copy Number Variation Detection Using Formalin Fixed Embedded Tissue in Metastatic Gastric Cancer

Seokhwi Kim, Jeeyun Lee, [ ... ], Kyoung-Mee Kim

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