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Mutation

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

Bruno Francou, Jérôme Bouligand, [ ... ], Jacques Young

Development and Inter-Laboratory Validation of Unlabeled Probe Melting Curve Analysis for Detection of JAK2 V617F Mutation in Polycythemia Vera

Zhiyuan Wu, Hong Yuan, [ ... ], Ming Guan

In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene

Mohammed Alanazi, Zainularifeen Abduljaleel, [ ... ], Mohammad D. Bazzi

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, [ ... ], Anu Bashamboo

Instability of the Octarepeat Region of the Human Prion Protein Gene

Baiya Li, Liuting Qing, Jianqun Yan, Qingzhong Kong

Clinical, Biological and Genetic Analysis of 8 Cases of Congenital Isolated Adrenocorticotrophic Hormone (ACTH) Deficiency

Luu-Ly Pham, Christelle Garot, Thierry Brue, Raja Brauner

Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain

Claudia Scotti, Carla Olivieri, [ ... ], Cesare Danesino

ENU-Induced Mutagenesis in Grass Carp (Ctenopharyngodon idellus) by Treating Mature Sperm

Xia-Yun Jiang, Cheng-Fei Sun, Quan-Gen Zhang, Shu-Ming Zou

Multiple TORC1-Associated Proteins Regulate Nitrogen Starvation-Dependent Cellular Differentiation in Saccharomyces cerevisiae

Sunil Laxman, Benjamin P. Tu

Bioenergetic Consequences of PINK1 Mutations in Parkinson Disease

Andrey Yurevich Abramov, Matthew Gegg, [ ... ], Anthony Henry Vernon Schapira

Functional Analysis of the Magnetosome Island in Magnetospirillum gryphiswaldense: The mamAB Operon Is Sufficient for Magnetite Biomineralization

Anna Lohße, Susanne Ullrich, [ ... ], Dirk Schüler

Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia

Bassam R. Ali, Imen Ben-Rebeh, [ ... ], Lihadh Al-Gazali

Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

Steven D. Sheridan, Kraig M. Theriault, [ ... ], Stephen J. Haggarty

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