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American Journal of Human Genetics|August 16, 2006
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humansHuimin Wu, Jill A Cowing, Michel Michaelides, et al.
Investigative Ophthalmology & Visual Science|April 26, 2008
Phenotypic variation in enhanced S-cone syndromeIsabelle Audo, Michel Michaelides, Anthony G Robson, et al.
The Journal of Experimental Biology|July 22, 2025
Emerging frontiers in visual ecologyEleanor M Caves, Karen L Cheney, Marie Dacke, et al.
European Journal of Human Genetics : EJHG|September 23, 2010
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophyFrancesca I Arrigoni, Mar Matarin, Pamela J Thompson, et al.
Investigative Ophthalmology & Visual Science|April 16, 2010
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophyMichel Michaelides, Marie-Claire Gaillard, Pascal Escher, et al.
Journal of Medical Genetics|January 24, 2007
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutationSanjay M Sisodiya, Pamela J Thompson, Anna Need, et al.
Investigative Ophthalmology & Visual Science|November 10, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaicJoseph Carroll, Alfredo Dubra, Jessica C Gardner, et al.
The Journal of Clinical Investigation|July 26, 2008
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceZhenglin Yang, Yali Chen, Concepcion Lillo, et al.
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