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Anthony T Moore

Showing results (161-170 of 277) with videos related to

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Human Mutation|March 24, 2009
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataractTianxiao Zhang, Rui Hua, Wei Xiao, et al.
Human Mutation|January 3, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyAlice E Davidson, Panagiotis I Sergouniotis, Donna S Mackay, et al.
Acta Ophthalmologica|January 1, 2019
Unilateral pigmentary retinopathy: a retrospective case seriesMarie-Hélène Errera, Anthony G Robson, Tracey Wong, et al.
American Journal of Ophthalmology|February 9, 2018
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis ImperfectaNashila Hirji, Patrick D Bradley, Shuning Li, et al.
Ophthalmic Genetics|June 22, 2017
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalitiesValentina Cipriani, Ambreen Kalhoro, Gavin Arno, et al.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophyRobert H Henderson, Naushin Waseem, Rowan Searle, et al.
Investigative Ophthalmology & Visual Science|October 2, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotypeSarah Hull, Gavin Arno, Vincent Plagnol, et al.
Investigative Ophthalmology & Visual Science|October 4, 2014
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone healthAdam M Dubis, Robert F Cooper, Jonathan Aboshiha, et al.
Pageof 28

Showing results (161-170 of 277) with videos related to

Sort By:
Pageof 28
Human Mutation|March 24, 2009
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataractTianxiao Zhang, Rui Hua, Wei Xiao, et al.
Human Mutation|January 3, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyAlice E Davidson, Panagiotis I Sergouniotis, Donna S Mackay, et al.
Acta Ophthalmologica|January 1, 2019
Unilateral pigmentary retinopathy: a retrospective case seriesMarie-Hélène Errera, Anthony G Robson, Tracey Wong, et al.
American Journal of Ophthalmology|February 9, 2018
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis ImperfectaNashila Hirji, Patrick D Bradley, Shuning Li, et al.
Ophthalmic Genetics|June 22, 2017
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalitiesValentina Cipriani, Ambreen Kalhoro, Gavin Arno, et al.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophyRobert H Henderson, Naushin Waseem, Rowan Searle, et al.
Investigative Ophthalmology & Visual Science|October 2, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotypeSarah Hull, Gavin Arno, Vincent Plagnol, et al.
Investigative Ophthalmology & Visual Science|October 4, 2014
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone healthAdam M Dubis, Robert F Cooper, Jonathan Aboshiha, et al.
Pageof 28