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Mutation detection

Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment

Chen-Chi Wu, Yin-Hung Lin, [ ... ], Pei-Lung Chen

Efficient Methods for Targeted Mutagenesis in Zebrafish Using Zinc-Finger Nucleases: Data from Targeting of Nine Genes Using CompoZr or CoDA ZFNs

Raman Sood, Blake Carrington, [ ... ], Paul Liu

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Mara Colombo, Giovanna De Vecchi, [ ... ], Paolo Radice

Simultaneous Detection of Oseltamivir- and Amantadine-Resistant Influenza by Oligonucleotide Microarray Visualization

Yingjie Zhang, Qiqi Liu, [ ... ], Shengqi Wang

Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification

Yang Zhang, Xianan Guo, Anhua Wu

Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene

Matija Rijavec, Peter Korošec, [ ... ], Mitja Košnik

Prediction of P53 Mutants (Multiple Sites) Transcriptional Activity Based on Structural (2D&3D) Properties

R. Geetha Ramani, Shomona Gracia Jacob

Detection and Clinical Significance of Intratumoral EGFR Mutational Heterogeneity in Chinese Patients with Advanced Non-Small Cell Lung Cancer

Hua Bai, Zhijie Wang, [ ... ], Jie Wang

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

Atsushi Ishii, Yoshiaki Saito, [ ... ], Shinichi Hirose

Sensitive Detection of Pre-Existing BCR-ABL Kinase Domain Mutations in CD34+ Cells of Newly Diagnosed Chronic-Phase Chronic Myeloid Leukemia Patients Is Associated with Imatinib Resistance: Implications in the Post-Imatinib Era

Zafar Iqbal, Aamer Aleem, [ ... ], Tanveer Akhtar

Multiple Genetic Alterations within the PI3K Pathway Are Responsible for AKT Activation in Patients with Ovarian Carcinoma

Carmela De Marco, Nicola Rinaldo, [ ... ], Giuseppe Viglietto

Rapid Diagnosis of Drug Resistance to Fluoroquinolones, Amikacin, Capreomycin, Kanamycin and Ethambutol Using Genotype MTBDRsl Assay: A Meta-Analysis

Yan Feng, Sijun Liu, [ ... ], Wei Lu

A Novel SCN9A Mutation Responsible for Primary Erythromelalgia and Is Resistant to the Treatment of Sodium Channel Blockers

Min-Tzu Wu, Po-Yuan Huang, [ ... ], Ming-Jen Lee

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