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Human Mutation|November 4, 2014
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variantNathalie M Bax, Riccardo Sangermano, Susanne Roosing, et al.Journal of Medical Genetics|April 27, 2017
Missense mutations in the WD40 domain of <i>AHI1</i> cause non-syndromic retinitis pigmentosaThanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, et al.Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.Frontiers in Genetics|October 7, 2024
A proteogenomic atlas of the human neural retinaTabea V Riepe, Merel Stemerdink, Renee Salz, et al.Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.NPJ Genomic Medicine|June 7, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variantJanine Reurink, Erik de Vrieze, Catherina H Z Li, et al.Investigative Ophthalmology & Visual Science|March 1, 2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer, Bart P Leroy, Elfride De Baere, et al.Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.Pageof 31