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Anthony T Moore

Showing results (221-230 of 277) with videos related to

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Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, 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.
Scientific Reports|September 23, 2016
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)David A Carter, Matthew J K Smart, William V G Letton, et al.
Nature Communications|February 9, 2020
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degenerationValentina Cipriani, Laura Lorés-Motta, Fan He, et al.
Investigative Ophthalmology & Visual Science|September 29, 2004
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)Jill Yardley, Bart P Leroy, Niki Hart-Holden, 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|January 5, 2002
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaChristina F Chakarova, Matthew M Hims, Hanno Bolz, et al.
American Journal of Ophthalmology|September 11, 2012
Assessing retinal structure in complete congenital stationary night blindness and Oguchi diseasePooja Godara, Robert F Cooper, Panagiotis I Sergouniotis, et al.
Human Molecular Genetics|May 6, 2009
X-linked cataract and Nance-Horan syndrome are allelic disordersMargherita Coccia, Simon P Brooks, Tom R Webb, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Pageof 28

Showing results (221-230 of 277) with videos related to

Sort By:
Pageof 28
Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, 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.
Scientific Reports|September 23, 2016
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)David A Carter, Matthew J K Smart, William V G Letton, et al.
Nature Communications|February 9, 2020
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degenerationValentina Cipriani, Laura Lorés-Motta, Fan He, et al.
Investigative Ophthalmology & Visual Science|September 29, 2004
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)Jill Yardley, Bart P Leroy, Niki Hart-Holden, 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|January 5, 2002
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaChristina F Chakarova, Matthew M Hims, Hanno Bolz, et al.
American Journal of Ophthalmology|September 11, 2012
Assessing retinal structure in complete congenital stationary night blindness and Oguchi diseasePooja Godara, Robert F Cooper, Panagiotis I Sergouniotis, et al.
Human Molecular Genetics|May 6, 2009
X-linked cataract and Nance-Horan syndrome are allelic disordersMargherita Coccia, Simon P Brooks, Tom R Webb, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Pageof 28