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Investigative Ophthalmology & Visual Science|January 15, 2010
Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2Malia M Edwards, Caralina Marín de Evsikova, Gayle B Collin, et al.The Journal of Biological Chemistry|January 6, 2010
Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formationMalia M Edwards, Elmina Mammadova-Bach, Fabien Alpy, et al.Proceedings of the National Academy of Sciences of the United States of America|May 11, 2000
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouseN B Akhmedov, N I Piriev, B Chang, et al.The American Journal of Pathology|May 22, 2016
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human DiseaseScott H Greenwald, Jeremy R Charette, Magdalena Staniszewska, et al.Journal of Neurophysiology|August 17, 2012
Depolarizing bipolar cell dysfunction due to a Trpm1 point mutationNeal S Peachey, Jillian N Pearring, Pasano Bojang, et al.Human Mutation|June 28, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall, Elizabeth G Hinman, Gayle B Collin, et al.Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.Plos Genetics|September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screenJanine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.Journal of Human Genetics|November 28, 2001
Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)T Asaka, K Ikeuchi, S Okino, et al.The Journal of Clinical Investigation|May 25, 2011
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceKarsten Boldt, Dorus A Mans, Jungyeon Won, et al.Pageof 17