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Andrew R Webster

Showing results (311-320 of 339) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
The British Journal of Ophthalmology|October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
American Journal of Ophthalmology|March 19, 2021
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, et al.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
American Journal of Ophthalmology|December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Pageof 34

Showing results (311-320 of 339) with videos related to

Sort By:
Pageof 34
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
The British Journal of Ophthalmology|October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
American Journal of Ophthalmology|March 19, 2021
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, et al.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
American Journal of Ophthalmology|December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Pageof 34