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Showing results (41-50 of 150) with videos related to

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Scientific Reports|January 22, 2021
A new mouse model for retinal degeneration due to Fam161a deficiencyAvigail Beryozkin, Chen Matsevich, Alexey Obolensky, et al.
Molecular Vision|May 19, 2012
A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?Patrik Schatz, Jesper Bregnhøj, Henrik Arvidsson, et al.
Genes|May 25, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing PanelSapir Shalom, Mor Hanany, Avital Eilat, et al.
Molecular Aspects of Medicine|May 1, 2026
RNA editing of pathogenic variants causing inherited retinal diseases using endogenous ADAR-current and future perspectivesManar Salameh, Nina Schneider, Johanna Valensi, et al.
Molecular Vision|October 27, 2021
A deep intronic substitution in <i>CNGB3</i> is one of the major causes of achromatopsia among Jewish patientsHamzah Aweidah, Manar Salameh, Claudia Yahalom, et al.
Plos One|May 11, 2026
Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging dataLeo Joskowicz, Tim Buchbinder, Eldan Chodorov, et al.
Plos One|December 20, 2012
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing lossSamer Khateb, Lina Zelinger, Tamar Ben-Yosef, et al.
Human Molecular Genetics|March 10, 2015
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal networkSilvio Alessandro Di Gioia, Pietro Farinelli, Stef J F Letteboer, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like diseaseAnat Beit-Ya'acov, Liliana Mizrahi-Meissonnier, Alexey Obolensky, et al.
Progress in Retinal and Eye Research|November 28, 2021
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalitiesNina Schneider, Yogapriya Sundaresan, Prakadeeswari Gopalakrishnan, et al.
Pageof 15

Showing results (41-50 of 150) with videos related to

Sort By:
Pageof 15
Scientific Reports|January 22, 2021
A new mouse model for retinal degeneration due to Fam161a deficiencyAvigail Beryozkin, Chen Matsevich, Alexey Obolensky, et al.
Molecular Vision|May 19, 2012
A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?Patrik Schatz, Jesper Bregnhøj, Henrik Arvidsson, et al.
Genes|May 25, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing PanelSapir Shalom, Mor Hanany, Avital Eilat, et al.
Molecular Aspects of Medicine|May 1, 2026
RNA editing of pathogenic variants causing inherited retinal diseases using endogenous ADAR-current and future perspectivesManar Salameh, Nina Schneider, Johanna Valensi, et al.
Molecular Vision|October 27, 2021
A deep intronic substitution in <i>CNGB3</i> is one of the major causes of achromatopsia among Jewish patientsHamzah Aweidah, Manar Salameh, Claudia Yahalom, et al.
Plos One|May 11, 2026
Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging dataLeo Joskowicz, Tim Buchbinder, Eldan Chodorov, et al.
Plos One|December 20, 2012
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing lossSamer Khateb, Lina Zelinger, Tamar Ben-Yosef, et al.
Human Molecular Genetics|March 10, 2015
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal networkSilvio Alessandro Di Gioia, Pietro Farinelli, Stef J F Letteboer, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like diseaseAnat Beit-Ya'acov, Liliana Mizrahi-Meissonnier, Alexey Obolensky, et al.
Progress in Retinal and Eye Research|November 28, 2021
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalitiesNina Schneider, Yogapriya Sundaresan, Prakadeeswari Gopalakrishnan, et al.
Pageof 15