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Showing results (121-130 of 150) with videos related to

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JAMA Ophthalmology|May 16, 2024
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli PopulationSapir Shalom, Tamar Ben-Yosef, Ifat Sher, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 18, 2013
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneKoji M Nishiguchi, Richard G Tearle, Yangfan P Liu, et al.
Scientific Reports|August 27, 2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited RetinopathiesAvigail Beryozkin, Elia Shevah, Adva Kimchi, et al.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyMiriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Investigative Ophthalmology & Visual Science|February 5, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene PollKari Branham, Lassana Samarakoon, Isabelle Audo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 29, 2024
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degenerationJi Hoon Han, Kim Rodenburg, Tamar Hayman, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
Pageof 15

Showing results (121-130 of 150) with videos related to

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Pageof 15
JAMA Ophthalmology|May 16, 2024
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli PopulationSapir Shalom, Tamar Ben-Yosef, Ifat Sher, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 18, 2013
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneKoji M Nishiguchi, Richard G Tearle, Yangfan P Liu, et al.
Scientific Reports|August 27, 2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited RetinopathiesAvigail Beryozkin, Elia Shevah, Adva Kimchi, et al.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyMiriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Investigative Ophthalmology & Visual Science|February 5, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene PollKari Branham, Lassana Samarakoon, Isabelle Audo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 29, 2024
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degenerationJi Hoon Han, Kim Rodenburg, Tamar Hayman, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
Pageof 15