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Gavin Arno

Showing results (71-80 of 185) with videos related to

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American Journal of Human Genetics|September 3, 2024
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosaAna Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, et al.
Molecular Genetics and Metabolism|September 5, 2025
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataractMaxwell B Colonna, Andrzej B Poplawski, Marie N Brzoska, et al.
Ophthalmology|April 4, 2017
Benign Yellow Dot Maculopathy: A New Macular PhenotypeArundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, et al.
Molecular Vision|September 14, 2018
Novel homozygous splicing mutations in Alessia Fiorentino, Jing Yu, 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.
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.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, 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.
Translational Vision Science & Technology|September 30, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field ElectroretinographySophie L Glinton, Antonio Calcagni, Watjana Lilaonitkul, et al.
JAMA Ophthalmology|January 6, 2017
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis PigmentosaSarah Hull, Marcella Attanasio, Gavin Arno, et al.
Pageof 19

Showing results (71-80 of 185) with videos related to

Sort By:
Pageof 19
American Journal of Human Genetics|September 3, 2024
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosaAna Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, et al.
Molecular Genetics and Metabolism|September 5, 2025
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataractMaxwell B Colonna, Andrzej B Poplawski, Marie N Brzoska, et al.
Ophthalmology|April 4, 2017
Benign Yellow Dot Maculopathy: A New Macular PhenotypeArundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, et al.
Molecular Vision|September 14, 2018
Novel homozygous splicing mutations in Alessia Fiorentino, Jing Yu, 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.
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.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, 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.
Translational Vision Science & Technology|September 30, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field ElectroretinographySophie L Glinton, Antonio Calcagni, Watjana Lilaonitkul, et al.
JAMA Ophthalmology|January 6, 2017
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis PigmentosaSarah Hull, Marcella Attanasio, Gavin Arno, et al.
Pageof 19