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Mutation detection

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine

Asoke K. Talukder, Shashidhar Ravishankar, [ ... ], Francesco Blasi

Mutational Analysis of Circulating Tumor Cells from Colorectal Cancer Patients and Correlation with Primary Tumor Tissue

Anna Lyberopoulou, Gerasimos Aravantinos, [ ... ], Maria Gazouli

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome

Cui-Mei Zhao, Lu-Ying Peng, [ ... ], Yi-Qing Yang

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin M. J. Kirschner, Mirle Schemionek, [ ... ], Steffen Koschmieder

Digital Detection of Multiple Minority Mutants and Expression Levels of Multiple Colorectal Cancer-Related Genes Using Digital-PCR Coupled with Bead-Array

Huan Huang, Shuo Li, Lizhou Sun, Guohua Zhou

Novel Carboxypeptidase A6 (CPA6) Mutations Identified in Patients with Juvenile Myoclonic and Generalized Epilepsy

Matthew R. Sapio, Monique Vessaz, [ ... ], Annick Salzmann

Circulating Free DNA as Biomarker and Source for Mutation Detection in Metastatic Colorectal Cancer

Karen Lise Garm Spindler, Niels Pallisgaard, [ ... ], Anders Jakobsen

Genetic Heterogeneity of the β-Globin Gene in Various Geographic Populations of Yunnan in Southwestern China

Jie Zhang, Jing He, [ ... ], Bao-Sheng Zhu

Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy

Cinzia Forleo, Monica Carmosino, [ ... ], Stefano Favale

Frequency and Geographic Distribution of gyrA and gyrB Mutations Associated with Fluoroquinolone Resistance in Clinical Mycobacterium Tuberculosis Isolates: A Systematic Review

Elisea Avalos, Donald Catanzaro, [ ... ], Timothy Rodwell

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, [ ... ], Christine Petit

Genetic Mutations Associated with Isoniazid Resistance in Mycobacterium tuberculosis: A Systematic Review

Marva Seifert, Donald Catanzaro, Antonino Catanzaro, Timothy C. Rodwell

Melting Curve Analysis after T Allele Enrichment (MelcaTle) as a Highly Sensitive and Reliable Method for Detecting the JAK2V617F Mutation

Soji Morishita, Kochi Takahashi, [ ... ], Norio Komatsu

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