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Dror Sharon

Showing results (91-100 of 150) with videos related to

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American Journal of Human Genetics|February 8, 2011
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsLina Zelinger, Eyal Banin, Alexey Obolensky, et al.
Frontiers in Cell and Developmental Biology|November 1, 2021
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 PatientsAvigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, et al.
JAMA Ophthalmology|July 17, 2025
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal DegenerationManar Salameh, Ghadeer Abu Tair, Samira Mousa, et al.
American Journal of Human Genetics|September 3, 2016
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing LossPrasanthi Namburi, Rinki Ratnapriya, Samer Khateb, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Human Molecular Genetics|February 25, 2016
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaMingchu Xu, Takeyuki Yamada, Zixi Sun, et al.
Harefuah|February 20, 2019
[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES]Dror Sharon, Tamar Ben-Yosef, Eran Pras, et al.
Human Molecular Genetics|December 23, 2017
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosaMonika Weisz Hubshman, Sanne Broekman, Erwin van Wijk, et al.
Experimental Eye Research|May 10, 2026
PRCD-associated retinitis pigmentosa in dogs and humansValerie L Dufour, Yu Sato, Alexander Sumaroka, et al.
Genes|June 27, 2024
Genetic and Clinical Analyses of the <i>KIZ</i>-c.226C>T Variant Resulting in a Dual Mutational MechanismYogapriya Sundaresan, Antonio Rivera, Alexey Obolensky, et al.
Pageof 15

Showing results (91-100 of 150) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|February 8, 2011
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsLina Zelinger, Eyal Banin, Alexey Obolensky, et al.
Frontiers in Cell and Developmental Biology|November 1, 2021
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 PatientsAvigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, et al.
JAMA Ophthalmology|July 17, 2025
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal DegenerationManar Salameh, Ghadeer Abu Tair, Samira Mousa, et al.
American Journal of Human Genetics|September 3, 2016
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing LossPrasanthi Namburi, Rinki Ratnapriya, Samer Khateb, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Human Molecular Genetics|February 25, 2016
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaMingchu Xu, Takeyuki Yamada, Zixi Sun, et al.
Harefuah|February 20, 2019
[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES]Dror Sharon, Tamar Ben-Yosef, Eran Pras, et al.
Human Molecular Genetics|December 23, 2017
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosaMonika Weisz Hubshman, Sanne Broekman, Erwin van Wijk, et al.
Experimental Eye Research|May 10, 2026
PRCD-associated retinitis pigmentosa in dogs and humansValerie L Dufour, Yu Sato, Alexander Sumaroka, et al.
Genes|June 27, 2024
Genetic and Clinical Analyses of the <i>KIZ</i>-c.226C>T Variant Resulting in a Dual Mutational MechanismYogapriya Sundaresan, Antonio Rivera, Alexey Obolensky, et al.
Pageof 15