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Anthony T Moore

Showing results (181-190 of 277) with videos related to

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Molecular Vision|November 9, 2011
RDH12 retinopathy: novel mutations and phenotypic descriptionDonna S Mackay, Arundhati Dev Borman, Phillip Moradi, et al.
Molecular Vision|March 20, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophyDonna S Mackay, Robert H Henderson, Panagiotis I Sergouniotis, et al.
Human Mutation|December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesityArundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
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.
Investigative Ophthalmology & Visual Science|August 9, 2014
A prospective longitudinal study of retinal structure and function in achromatopsiaJonathan Aboshiha, Adam M Dubis, Jill Cowing, et al.
European Journal of Human Genetics : EJHG|May 29, 2002
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosaT Jeffrey Keen, Matthew M Hims, Arthur B McKie, 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|September 27, 2014
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65Caterina Ripamonti, G Bruce Henning, Robin R Ali, et al.
Human Mutation|January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX familiesIlaria Zito, Louise E Allen, Reshma J Patel, et al.
Pageof 28

Showing results (181-190 of 277) with videos related to

Sort By:
Pageof 28
Molecular Vision|November 9, 2011
RDH12 retinopathy: novel mutations and phenotypic descriptionDonna S Mackay, Arundhati Dev Borman, Phillip Moradi, et al.
Molecular Vision|March 20, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophyDonna S Mackay, Robert H Henderson, Panagiotis I Sergouniotis, et al.
Human Mutation|December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesityArundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
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.
Investigative Ophthalmology & Visual Science|August 9, 2014
A prospective longitudinal study of retinal structure and function in achromatopsiaJonathan Aboshiha, Adam M Dubis, Jill Cowing, et al.
European Journal of Human Genetics : EJHG|May 29, 2002
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosaT Jeffrey Keen, Matthew M Hims, Arthur B McKie, 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|September 27, 2014
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65Caterina Ripamonti, G Bruce Henning, Robin R Ali, et al.
Human Mutation|January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX familiesIlaria Zito, Louise E Allen, Reshma J Patel, et al.
Pageof 28