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Mutation

Desmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts

Alexia Vite, Estelle Gandjbakhch, [ ... ], Eric Villard

Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

Xue Jiao, Yingying Qin, [ ... ], Zi-Jiang Chen

The Prevalence of Nine Genetic Disorders in a Dog Population from Belgium, the Netherlands and Germany

Bart J. G. Broeckx, Frank Coopman, [ ... ], Dieter Deforce

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan-Zong Song, Zhan-Hui Zhang, [ ... ], Takeyori Saheki

TOX3 Mutations in Breast Cancer

James Owain Jones, Suet-Feung Chin, [ ... ], Ana-Teresa Maia

Mechanistic Insight into the Relationship between N-Terminal Acetylation of α-Synuclein and Fibril Formation Rates by NMR and Fluorescence

Lijuan Kang, Maria K. Janowska, Gina M. Moriarty, Jean Baum

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

Alejandro García Castaño, Gustavo Pérez de Nanclares, [ ... ], RenalTube Group

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

Lotte Risom, Line Christoffersen, [ ... ], Morten Duno

Point Mutations in the Transmembrane Region of the Clic1 Ion Channel Selectively Modify Its Biophysical Properties

Stefania Averaimo, Rosella Abeti, [ ... ], Michele Mazzanti

Hepatitis C Virus Replication and Golgi Function in Brefeldin A-Resistant Hepatoma-Derived Cells

Rayan Farhat, Lucie Goueslain, [ ... ], Yves Rouillé

Allosteric Coupling between the Intracellular Coupling Helix 4 and Regulatory Sites of the First Nucleotide-binding Domain of CFTR

Jennifer E. Dawson, Patrick J. Farber, Julie D. Forman-Kay

Plasma Ceramide and Glucosylceramide Metabolism Is Altered in Sporadic Parkinson's Disease and Associated with Cognitive Impairment: A Pilot Study

Michelle M. Mielke, Walter Maetzler, [ ... ], Inga Liepelt-Scarfone

Enhancement of Host Immune Responses by Oral Vaccination to Salmonella enterica serovar Typhimurium Harboring Both FliC and FljB Flagella

Jeong Seon Eom, Jin Seok Kim, [ ... ], Yong Keun Park

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