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Mutation detection

Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations

Shuang Liu, Weimin Zhang, [ ... ], Zhengqing Qiu

Molecular Genetic Characterization of Individual Cancer Cells Isolated via Single-Cell Printing

Julian Riba, Nathalie Renz, [ ... ], Heiko Becker

Optimized Multiplex Detection of 7 KRAS Mutations by Taqman Allele-Specific qPCR

Andrea Orue, Manuel Rieber

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis

Pamela J. Kaisaki, Anthony Cutts, [ ... ], Jenny C. Taylor

Steroidogenic Acute Regulatory Protein Overexpression Correlates with Protein Kinase A Activation in Adrenocortical Adenoma

Weiwei Zhou, Luming Wu, [ ... ], Weiqing Wang

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi, Amel Bahloul, [ ... ], Christine Petit

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

Kyu-Hee Han, Ah Reum Kim, [ ... ], Byung Yoon Choi

A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG

Isik Turker, Takeru Makiyama, [ ... ], Minoru Horie

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, [ ... ], Nan Chen

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

Pedro Pinto, Ana Peixoto, [ ... ], Manuel R. Teixeira

Precise Detection of IDH1/2 and BRAF Hotspot Mutations in Clinical Glioma Tissues by a Differential Calculus Analysis of High-Resolution Melting Data

Ryusuke Hatae, Nobuhiro Hata, [ ... ], Koji Iihara

Whole-Genome Sequencing Analysis of Serially Isolated Multi-Drug and Extensively Drug Resistant Mycobacterium tuberculosis from Thai Patients

Kiatichai Faksri, Jun Hao Tan, [ ... ], Angkana Chaiprasert

The Emergence of Quinolone Resistant Shigella sonnei, Pondicherry, India

Ankita Das, Mailan Natarajan, Jharna Mandal

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