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Mutation

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

Alessandro Achilli, Luisa Iommarini, [ ... ], Valerio Carelli

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

Kohji Miura, Noriyuki Namba, [ ... ], Keiichi Ozono

High-Throughput Genotyping in Metastatic Esophageal Squamous Cell Carcinoma Identifies Phosphoinositide-3-Kinase and BRAF Mutations

Chi Hoon Maeng, Jeeyun Lee, [ ... ], Young-Mog Shim

Isoform-Specific Dominant-Negative Effects Associated with hERG1 G628S Mutation in Long QT Syndrome

Matthew R. Stump, Qiuming Gong, Zhengfeng Zhou

An Orphan Chemotaxis Sensor Regulates Virulence and Antibiotic Tolerance in the Human Pathogen Pseudomonas aeruginosa

Heather Pearl McLaughlin, Delphine L. Caly, [ ... ], John Maxwell Dow

SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

Maria Fischer, Rene Snajder, [ ... ], Gernot Stocker

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, [ ... ], Bing-Wen Soong

Yeasts Acquire Resistance Secondary to Antifungal Drug Treatment by Adaptive Mutagenesis

David Quinto-Alemany, Ana Canerina-Amaro, [ ... ], Cristina Gil-Lamaignere

Contribution of the Staphylococcus aureus Atl AM and GL Murein Hydrolase Activities in Cell Division, Autolysis, and Biofilm Formation

Jeffrey L. Bose, McKenzie K. Lehman, Paul D. Fey, Kenneth W. Bayles

Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, [ ... ], Maximilian Muenke

Flowering Time Modulation by a Vacuolar SNARE via FLOWERING LOCUS C in Arabidopsis thaliana

Kazuo Ebine, Tomohiro Uemura, Akihiko Nakano, Takashi Ueda

Complex Mutations & Subpopulations of Deletions at Exon 19 of EGFR in NSCLC Revealed by Next Generation Sequencing: Potential Clinical Implications

Antonio Marchetti, Maela Del Grammastro, [ ... ], Fiamma Buttitta

Influence of GABA_A Receptor α Subunit Isoforms on the Benzodiazepine Binding Site

Benjamin P. Lüscher, Roland Baur, Maurice Goeldner, Erwin Sigel

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