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Anthony G Robson

Showing results (161-170 of 188) with videos related to

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Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Investigative Ophthalmology & Visual Science|May 3, 2021
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular FeatureNeringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, et al.
Investigative Ophthalmology & Visual Science|January 24, 2024
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, et al.
Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophyRenae Elaine Bertrand, Jun Wang, Kaitlyn H Xiong, et al.
Annals of Neurology|July 13, 2019
SSBP1 mutations in dominant optic atrophy with variable retinal degenerationNeringa Jurkute, Costin Leu, Hans-Martin Pogoda, 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.
Human Molecular Genetics|November 2, 2021
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotypeLaurence M Occelli, Anahita Daruwalla, Samantha R De Silva, et al.
Pageof 19

Showing results (161-170 of 188) with videos related to

Sort By:
Pageof 19
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Investigative Ophthalmology & Visual Science|May 3, 2021
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular FeatureNeringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, et al.
Investigative Ophthalmology & Visual Science|January 24, 2024
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, et al.
Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophyRenae Elaine Bertrand, Jun Wang, Kaitlyn H Xiong, et al.
Annals of Neurology|July 13, 2019
SSBP1 mutations in dominant optic atrophy with variable retinal degenerationNeringa Jurkute, Costin Leu, Hans-Martin Pogoda, 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.
Human Molecular Genetics|November 2, 2021
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotypeLaurence M Occelli, Anahita Daruwalla, Samantha R De Silva, et al.
Pageof 19