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Andrew R Webster

Showing results (201-210 of 372) with videos related to

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Ophthalmology. Retina|June 18, 2023
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural HistoryMalena Daich Varela, Emma S Duignan, Samantha R De Silva, et al.
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.
Investigative Ophthalmology & Visual Science|November 12, 2024
The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk PolymorphismZihe Xu, Jit Kai Tan, Krishnika Vetrivel, et al.
Acta Ophthalmologica|January 1, 2019
Unilateral pigmentary retinopathy: a retrospective case seriesMarie-Hélène Errera, Anthony G Robson, Tracey Wong, et al.
Ophthalmology|February 15, 2016
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 MutationsAnna Majander, Maria Bitner-Glindzicz, Choi M Chan, et al.
Ophthalmic Genetics|October 7, 2025
A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing lossLauren Y Cao, Anna Duemler, Emily H Jung, 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.
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.
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.
Pageof 38

Showing results (201-210 of 372) with videos related to

Sort By:
Pageof 38
Ophthalmology. Retina|June 18, 2023
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural HistoryMalena Daich Varela, Emma S Duignan, Samantha R De Silva, et al.
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.
Investigative Ophthalmology & Visual Science|November 12, 2024
The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk PolymorphismZihe Xu, Jit Kai Tan, Krishnika Vetrivel, et al.
Acta Ophthalmologica|January 1, 2019
Unilateral pigmentary retinopathy: a retrospective case seriesMarie-Hélène Errera, Anthony G Robson, Tracey Wong, et al.
Ophthalmology|February 15, 2016
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 MutationsAnna Majander, Maria Bitner-Glindzicz, Choi M Chan, et al.
Ophthalmic Genetics|October 7, 2025
A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing lossLauren Y Cao, Anna Duemler, Emily H Jung, 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.
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.
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.
Pageof 38