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Mutation detection

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Xiu-Feng Huang, Ping Xiang, [ ... ], Zi-Bing Jin

Proper Indication of BRAF^V600E Mutation Testing in Fine-Needle Aspirates of Thyroid Nodules

Jieun Koh, Jong Rak Choi, [ ... ], Jin Young Kwak

Mapping and Exome Sequencing Identifies a Mutation in the IARS Gene as the Cause of Hereditary Perinatal Weak Calf Syndrome

Takashi Hirano, Naohiko Kobayashi, [ ... ], Yoshikazu Sugimoto

Identification of the Causative Gene for Simmental Arachnomelia Syndrome Using a Network-Based Disease Gene Prioritization Approach

Shihui Jiao, Qin Chu, [ ... ], Yuan Zhang

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, [ ... ], Pu Dai

A Novel Fully Automated Molecular Diagnostic System (AMDS) for Colorectal Cancer Mutation Detection

Shiro Kitano, Jamie Myers, [ ... ], Masahiko Amano

Detection of Rifampicin Resistance in Mycobacterium tuberculosis by Padlock Probes and Magnetic Nanobead-Based Readout

Anna Engström, Teresa Zardán Gómez de la Torre, [ ... ], David Herthnek

EGFR Mutations in Indian Lung Cancer Patients: Clinical Correlation and Outcome to EGFR Targeted Therapy

Vanita Noronha, Kumar Prabhash, [ ... ], Rita Mulherkar

A Further Analysis of the Relationship between Yellow Ripe-Fruit Color and the Capsanthin-Capsorubin Synthase Gene in Pepper (Capsicum sp.) Indicated a New Mutant Variant in C. annuum and a Tandem Repeat Structure in Promoter Region

Zheng Li, Shu Wang, [ ... ], Zhen-Hui Gong

EZH2 Mutations Are Related to Low Blast Percentage in Bone Marrow and -7/del(7q) in De Novo Acute Myeloid Leukemia

Xiuli Wang, Haiping Dai, [ ... ], Depei Wu

In Vitro HIV-1 Evolution in Response to Triple Reverse Transcriptase Inhibitors & In Silico Phenotypic Analysis

Barbara A. Rath, Kaveh Pouran Yousef, [ ... ], Thomas C. Merigan

Functional Characterization of a CRH Missense Mutation Identified in an ADNFLE Family

Veronica Sansoni, Matilde Forcella, [ ... ], Romina Combi

Novel DNA Variants and Mutation Frequencies of hMLH1 and hMSH2 Genes in Colorectal Cancer in the Northeast China Population

Fulan Hu, Dandan Li, [ ... ], Yashuang Zhao

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