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Mutation detection

Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

Sébastien Fritz, Aurelien Capitan, [ ... ], Didier Boichard

Molecular Dissection of the Basal Clades in the Human Y Chromosome Phylogenetic Tree

Rosaria Scozzari, Andrea Massaia, [ ... ], Fulvio Cruciani

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, [ ... ], Massoud Houshmand

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, [ ... ], Hanno J. Bolz

High-Throughput Detection of Induced Mutations and Natural Variation Using KeyPoint™ Technology

Diana Rigola, Jan van Oeveren, [ ... ], Michiel J. T. van Eijk

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, [ ... ], Bernd Wissinger

PIK3CA and TP53 Gene Mutations in Human Breast Cancer Tumors Frequently Detected by Ion Torrent DNA Sequencing

Xusheng Bai, Enke Zhang, [ ... ], Jinglong Gao

HLA-Associated Immune Escape Pathways in HIV-1 Subtype B Gag, Pol and Nef Proteins

Zabrina L. Brumme, Mina John, [ ... ], Simon Mallal

Analysis of antifungal resistance genes in Candida albicans and Candida glabrata using next generation sequencing

Kathrin Spettel, Wolfgang Barousch, [ ... ], Birgit Willinger

Genetic Variation in the Staphylococcus aureus 8325 Strain Lineage Revealed by Whole-Genome Sequencing

Kristoffer T. Bæk, Dorte Frees, [ ... ], William L. Kelley

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, [ ... ], Carsten Bergmann

Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

Aurelia Santoro, Valentina Balbi, [ ... ], Claudio Franceschi

Optimised Pre-Analytical Methods Improve KRAS Mutation Detection in Circulating Tumour DNA (ctDNA) from Patients with Non-Small Cell Lung Cancer (NSCLC)

James L. Sherwood, Claire Corcoran, [ ... ], Alexander Kohlmann

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