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Showing 300 - 312 of 360

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Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy

Marina Capuano, Carmen Maria Garcia-Herrero,  [ ... ], Lucia Sacchetti

Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

Amélie Bonnefond, Julien Philippe,  [ ... ], Philippe Froguel

Human Cataract Mutations in EPHA2 SAM Domain Alter Receptor Stability and Function

Jeong Eun Park, Alexander I. Son,  [ ... ], Renping Zhou

Evidence for a Rad18-Independent Frameshift Mutagenesis Pathway in Human Cell-Free Extracts

Régine Janel-Bintz, Jérôme Wagner,  [ ... ], Agnès M. Cordonnier

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte,  [ ... ], Laura Bannach Jardim

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