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The Journal of Cell Biology|April 15, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zoneElle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.Journal of the American Society of Nephrology : JASN|May 31, 2014
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGSEvelyne Huynh Cong, Albane A Bizet, Olivia Boyer, et al.Journal of Medical Genetics|August 16, 2015
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypeIsabelle Perrault, Jan Halbritter, Jonathan D Porath, 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.American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.Orphanet Journal of Rare Diseases|June 15, 2019
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.Pageof 9