Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Gavin Arno

Showing results (161-170 of 185) with videos related to

Pageof 19
Sort By:
Journal of Medical Genetics|December 7, 2014
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesRobert B Hufnagel, Gavin Arno, Nichole D Hein, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
NPJ Genomic Medicine|May 22, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in ArgentinaPatricio G Schlottmann, José D Luna, Natalia Labat, et al.
American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.
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.
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.
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.
Pageof 19

Showing results (161-170 of 185) with videos related to

Sort By:
Pageof 19
Journal of Medical Genetics|December 7, 2014
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesRobert B Hufnagel, Gavin Arno, Nichole D Hein, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
NPJ Genomic Medicine|May 22, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in ArgentinaPatricio G Schlottmann, José D Luna, Natalia Labat, et al.
American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.
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.
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.
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.
Pageof 19