Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|December 11, 2012
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalySandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, et al.
European Journal of Medical Genetics|April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeCarine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.
Plos Genetics|March 12, 2016
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP DysregulationValentina Grampa, Marion Delous, Mohamad Zaidan, et al.
Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.
Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, et al.
Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.
Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.
Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.
Acta Neuropathologica|July 4, 2013
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular basesHoma Adle-Biassette, Pascale Saugier-Veber, Catherine Fallet-Bianco, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Pageof 6