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Mutation detection

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

Alejandro García Castaño, Gustavo Pérez de Nanclares, [ ... ], Gema Ariceta

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Denise Yan, Guangxin Xiang, [ ... ], Xue Zhong Liu

Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays

Giulia Breveglieri, Anna Travan, [ ... ], Monica Borgatti

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

Jacopo Azzollini, Chiara Pesenti, [ ... ], Siranoush Manoukian

Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis

Li-Hong Shou, Dan Cao, [ ... ], Bao-Lian Xu

Highly sensitive detection of a HER2 12-base pair duplicated insertion mutation in lung cancer using the Eprobe-PCR method

Yoshiaki Takase, Kengo Usui, [ ... ], Izumi Takeyoshi

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population

Xiao Huang, Shen Shen, Dongsheng Fan

Digital PCR Improves Mutation Analysis in Pancreas Fine Needle Aspiration Biopsy Specimens

Shonan Sho, Colin M. Court, [ ... ], James S. Tomlinson

Superior Multiplexing Capacity of PlexPrimers Enables Sensitive and Specific Detection of SNPs and Clustered Mutations in qPCR

Lit Yeen Tan, Samantha Michelle Walker, [ ... ], Elisa Mokany

Characterization of the Drug Resistance Profiles of Patients Infected with CRF07_BC Using Phenotypic Assay and Ultra-Deep Pyrosequencing

Szu-Wei Huang, Wei-You Li, [ ... ], Yi-Ming Arthur Chen

Changes in Molecular Characteristics of Mycoplasma pneumoniae in Clinical Specimens from Children in Beijing between 2003 and 2015

Hongmei Sun, Guanhua Xue, [ ... ], Liqiong Wang

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation

Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy

Yadi Li, Jie Li, [ ... ], Xiangming Guo

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