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HGG Advances|January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremiaZeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.Ophthalmology|October 23, 2013
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish populationMarta Corton, Almudena Avila-Fernandez, Elena Vallespín, et al.Genes|November 27, 2019
Genetic Spectrum of <i>ABCA4</i>-Associated Retinal Degeneration in PolandAnna M Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, et al.Ophthalmology|July 14, 2009
Genetic etiology and clinical consequences of complete and incomplete achromatopsiaAlberta A H J Thiadens, Niki W R Slingerland, Susanne Roosing, et al.Human Molecular Genetics|October 2, 2008
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like proteinErwin van Wijk, Ferry F J Kersten, Aileen Kartono, et al.Ophthalmology|June 12, 2010
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotypeKarin W Littink, L Ingeborgh van den Born, Robert K Koenekoop, et al.Molecular Vision|May 11, 2010
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsiaMaleeha Azam, Rob W J Collin, Syed Tahir Abbas Shah, et al.Scientific Reports|December 2, 2022
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in ItalyMarianthi Karali, Francesco Testa, Valentina Di Iorio, et al.Molecular Vision|April 6, 2013
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Investigative Ophthalmology & Visual Science|June 5, 2012
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 geneTomas R Burke, Gerald A Fishman, Jana Zernant, et al.Pageof 31