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Dror Sharon

Showing results (71-80 of 150) with videos related to

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Genetic Testing|May 3, 2008
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi JewsNoa Auslender, Dikla Bandah, Leah Rizel, et al.
Molecular Therapy. Nucleic Acids|February 20, 2024
A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseasesNina Schneider, Ricky Steinberg, Amit Ben-David, et al.
Ophthalmic Genetics|October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriersAdva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
Molecular Vision|April 11, 2022
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genesSamer Khateb, Aya Shemesh, Ashly Offenheim, et al.
Investigative Ophthalmology & Visual Science|December 18, 2014
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in IsraelCsilla H Lazar, Mousumi Mutsuddi, Adva Kimchi, et al.
BMC Medical Genetics|August 1, 2016
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindredLibe Gradstein, Jenny Zolotushko, Yuri V Sergeev, et al.
Translational Vision Science & Technology|March 1, 2023
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in MiceAlaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, et al.
American Journal of Human Genetics|August 14, 2010
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli populationMor Hanany, Gilad Allon, Adva Kimchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humansSamer Khateb, Björn Kowalewski, Nicola Bedoni, et al.
Pageof 15

Showing results (71-80 of 150) with videos related to

Sort By:
Pageof 15
Genetic Testing|May 3, 2008
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi JewsNoa Auslender, Dikla Bandah, Leah Rizel, et al.
Molecular Therapy. Nucleic Acids|February 20, 2024
A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseasesNina Schneider, Ricky Steinberg, Amit Ben-David, et al.
Ophthalmic Genetics|October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriersAdva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
Molecular Vision|April 11, 2022
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genesSamer Khateb, Aya Shemesh, Ashly Offenheim, et al.
Investigative Ophthalmology & Visual Science|December 18, 2014
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in IsraelCsilla H Lazar, Mousumi Mutsuddi, Adva Kimchi, et al.
BMC Medical Genetics|August 1, 2016
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindredLibe Gradstein, Jenny Zolotushko, Yuri V Sergeev, et al.
Translational Vision Science & Technology|March 1, 2023
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in MiceAlaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, et al.
American Journal of Human Genetics|August 14, 2010
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli populationMor Hanany, Gilad Allon, Adva Kimchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humansSamer Khateb, Björn Kowalewski, Nicola Bedoni, et al.
Pageof 15