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Mutation

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

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

Prognostic and Predictive Value of KRAS Mutations in Advanced Non-Small Cell Lung Cancer

Jong-Mu Sun, Deok Won Hwang, [ ... ], Keunchil Park

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

Resistance to β-Lactam Antibiotics Conferred by Point Mutations in Penicillin-Binding Proteins PBP3, PBP4 and PBP6 in Salmonella enterica

Song Sun, Maria Selmer, Dan I. Andersson

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

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

Integrative Meta-Analysis of Differential Gene Expression in Acute Myeloid Leukemia

Brady G. Miller, John A. Stamatoyannopoulos

Activation of Interferon Regulatory Factor 5 by Site Specific Phosphorylation

Hui-Chen Chang Foreman, Sarah Van Scoy, Tsu-Fan Cheng, Nancy C. Reich

Multiplex Detection of Rare Mutations by Picoliter Droplet Based Digital PCR: Sensitivity and Specificity Considerations

Eleonora Zonta, Fanny Garlan, [ ... ], Valérie Taly

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Jonas Juan-Mateu, Lidia Gonzalez-Quereda, [ ... ], Pia Gallano

The Impact of Point Mutations in the Human Androgen Receptor: Classification of Mutations on the Basis of Transcriptional Activity

Colin W. Hay, Iain J. McEwan

A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations

Louise M. Downs, Berit Wallin-Håkansson, [ ... ], Cathryn S. Mellersh

Evolution of a Major Drug Metabolizing Enzyme Defect in the Domestic Cat and Other Felidae: Phylogenetic Timing and the Role of Hypercarnivory

Binu Shrestha, J. Michael Reed, [ ... ], Michael H. Court

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

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

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