Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Corinne Stoetzel

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Clinical Journal of the American Society of Nephrology

Transplantation

Intensive Care Medicine

English

Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)

Journal of Medical Genetics

English

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

English

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Frontiers in Physiology

English

Transient Ciliogenesis Involving Bardet-Biedl Syndrome Proteins Is a Fundamental Characteristic of Adipogenic Differentiation

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

BBS8 Is Rarely Mutated in a Cohort of 128 Bardet–Biedl Syndrome Families

Journal of Human Genetics

English