Showing results (301-310 of 356) with videos related to
Sort By:
Pageof 36
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.JAMA Ophthalmology|May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18Aman Chandra, Gavin Arno, Kathleen Williamson, et al.American Journal of Human Genetics|June 12, 2012
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardationPeter M Krawitz, Yoshiko Murakami, Jochen Hecht, et al.American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.American Journal of Ophthalmology|May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl SyndromeSophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.Investigative Ophthalmology & Visual Science|May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.Investigative Ophthalmology & Visual Science|October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR GeneRola Ba-Abbad, Monique Leys, Xinjing Wang, et al.Proceedings of the National Academy of Sciences of the United States of America|October 9, 2007
Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunctionPeter J Coffey, Carlos Gias, Caroline J McDermott, et al.Investigative Ophthalmology & Visual Science|March 13, 2009
Clinicopathological case series of four patients with inherited macular diseaseLouisa Wickham, Fred K Chen, Geoffrey P Lewis, et al.Pageof 36