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Gene sequencing

Evaluating the Diagnostic Accuracy of Xpert MTB/RIF Assay in Pulmonary Tuberculosis

Surendra K Sharma, Mikashmi Kohli, [ ... ], Binit K Singh

Inducible and Acquired Clarithromycin Resistance in the Mycobacterium abscessus Complex

Marc Rubio, Francesca March, [ ... ], Pere Coll

Modeling Exon-Specific Bias Distribution Improves the Analysis of RNA-Seq Data

Xuejun Liu, Li Zhang, Songcan Chen

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

Daniel L. Polla, Maria T. O. Cardoso, [ ... ], Robert Pogue

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Hong Xia, Xiangjun Huang, [ ... ], Hao Deng

Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism

Yang Yang, Bei-sha Tang, [ ... ], Ji-feng Guo

16S rRNA Gene Sequence-Based Identification of Bacteria in Automatically Incubated Blood Culture Materials from Tropical Sub-Saharan Africa

Hagen Frickmann, Denise Dekker, [ ... ], Ralf Matthias Hagen

New Delhi Metallo-β-Lactamase 1(NDM-1), the Dominant Carbapenemase Detected in Carbapenem-Resistant Enterobacter cloacae from Henan Province, China

Cailin Liu, Shangshang Qin, [ ... ], Hong-Min Liu

Identification of Candidate Coral Pathogens on White Band Disease-Infected Staghorn Coral

Sarah A. Gignoux-Wolfsohn, Steven V. Vollmer

A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer

Liu Yang, Guosheng Wang, [ ... ], Shusen Zheng

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants

Maria Delio, Kunjan Patel, [ ... ], Cristina Montagna

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, [ ... ], Carmen Ayuso

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Wei Xin, Xueshan Xiao, [ ... ], Qingjiong Zhang

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