Showing results (261-270 of 307) with videos related to

Sort By:
Pageof 31
American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
American Journal of Ophthalmology|July 28, 2021
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical TrialsXuan-Thanh-An Nguyen, Mays Talib, Mary J van Schooneveld, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Nature Genetics|January 19, 2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisCarrie M Louie, Gianluca Caridi, Vanda S Lopes, et al.
Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Archives of Iranian Medicine|July 14, 2020
The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot StudyHamideh Sabbaghi, Narsis Daftarian, Fatemeh Suri, et al.
Pageof 31