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Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.Plos One|May 2, 2025
Adipocyte-specific deletion of Dbc1 does not recapitulate healthy obesity phenotype but suggests regulation of inflammation signalingLeonardo Santos, Rafael Sebastián Fort, Geraldine Schlapp, et al.Human Molecular Genetics|December 23, 2006
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationHelen R Dawe, Ursula M Smith, Andrew R Cullinane, et al.Scientific Reports|October 9, 2019
A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivoLeonardo Santos, Laura Colman, Paola Contreras, et al.Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseLoïc de Pontual, Norann A Zaghloul, Sophie Thomas, et al.Nature|October 2, 2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeStephen J Ansley, Jose L Badano, Oliver E Blacque, et al.Genes & Development|July 3, 2004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transportOliver E Blacque, Michael J Reardon, Chunmei Li, et al.Nature Genetics|August 18, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, et al.Pageof 4