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Dror Sharon

Showing results (111-120 of 150) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2025
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosaTamar Hayman, Shai Ovadia, Jaya Krishnan, et al.
Human Molecular Genetics|April 24, 2016
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degenerationPooja Biswas, Venkata Ramana Murthy Chavali, Giulia Agnello, et al.
Investigative Ophthalmology & Visual Science|February 27, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli PopulationAvigail Beryozkin, Ifat Sher, Miriam Ehrenberg, et al.
American Journal of Human Genetics|July 16, 2013
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaAlice E Davidson, Nele Schwarz, Lina Zelinger, et al.
Human Mutation|August 29, 2019
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, et al.
HGG Advances|September 14, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritabilityZelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, et al.
Human Molecular Genetics|April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.
Investigative Ophthalmology & Visual Science|November 10, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaicJoseph Carroll, Alfredo Dubra, Jessica C Gardner, et al.
American Journal of Human Genetics|August 13, 2011
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosaRıza Köksal Ozgül, Anna M Siemiatkowska, Didem Yücel, et al.
Pageof 15

Showing results (111-120 of 150) with videos related to

Sort By:
Pageof 15
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2025
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosaTamar Hayman, Shai Ovadia, Jaya Krishnan, et al.
Human Molecular Genetics|April 24, 2016
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degenerationPooja Biswas, Venkata Ramana Murthy Chavali, Giulia Agnello, et al.
Investigative Ophthalmology & Visual Science|February 27, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli PopulationAvigail Beryozkin, Ifat Sher, Miriam Ehrenberg, et al.
American Journal of Human Genetics|July 16, 2013
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaAlice E Davidson, Nele Schwarz, Lina Zelinger, et al.
Human Mutation|August 29, 2019
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, et al.
HGG Advances|September 14, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritabilityZelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, et al.
Human Molecular Genetics|April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.
Investigative Ophthalmology & Visual Science|November 10, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaicJoseph Carroll, Alfredo Dubra, Jessica C Gardner, et al.
American Journal of Human Genetics|August 13, 2011
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosaRıza Köksal Ozgül, Anna M Siemiatkowska, Didem Yücel, et al.
Pageof 15