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Molecular Vision
|
July 21, 2012
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients
Eran Pras, Elon Pras, Haike Reznik-Wolf, et al.
Investigative Ophthalmology & Visual Science
|
March 2, 2013
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations
Avigail Beryozkin, Lina Zelinger, Dikla Bandah-Rozenfeld, et al.
Investigative Ophthalmology & Visual Science
|
March 11, 2016
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
Avigail Beryozkin, Gal Levy, Anat Blumenfeld, et al.
Journal of Medical Genetics
|
May 1, 2014
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
Samer Khateb, Lina Zelinger, Liliana Mizrahi-Meissonnier, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 15, 2023
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa
Chen Matsevich, Prakadeeswari Gopalakrishnan, Ning Chang, et al.
Ophthalmic Genetics
|
October 27, 2009
Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population
Saleh Abu Asleh, Michal Lederman, Orly Weinstein, et al.
Acta Ophthalmologica
|
March 30, 2019
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Alaa Abu Diab, Ala'a AlTalbishi, Boris Rosin, et al.
Molecular Vision
|
June 2, 2020
A unique <i>PRDM13</i>-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique <i>CFH</i> variant
Prasanthi Namburi, Samer Khateb, Segev Meyer, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2007
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
Eyal Banin, Liliana Mizrahi-Meissonnier, Ruhama Neis, et al.
Genes
|
November 27, 2024
A Leaky Deep Intronic Splice Variant in <i>CLRN1</i> Is Associated with Non-Syndromic Retinitis Pigmentosa
Maria Abu Elasal, Samer Khateb, Daan M Panneman, et al.
Page
of 15
Search research articles
Search
Showing results (51-60 of 150) with videos related to
Sort By:
Page
of 15
Molecular Vision
|
July 21, 2012
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients
Eran Pras, Elon Pras, Haike Reznik-Wolf, et al.
Investigative Ophthalmology & Visual Science
|
March 2, 2013
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations
Avigail Beryozkin, Lina Zelinger, Dikla Bandah-Rozenfeld, et al.
Investigative Ophthalmology & Visual Science
|
March 11, 2016
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
Avigail Beryozkin, Gal Levy, Anat Blumenfeld, et al.
Journal of Medical Genetics
|
May 1, 2014
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
Samer Khateb, Lina Zelinger, Liliana Mizrahi-Meissonnier, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 15, 2023
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa
Chen Matsevich, Prakadeeswari Gopalakrishnan, Ning Chang, et al.
Ophthalmic Genetics
|
October 27, 2009
Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population
Saleh Abu Asleh, Michal Lederman, Orly Weinstein, et al.
Acta Ophthalmologica
|
March 30, 2019
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Alaa Abu Diab, Ala'a AlTalbishi, Boris Rosin, et al.
Molecular Vision
|
June 2, 2020
A unique <i>PRDM13</i>-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique <i>CFH</i> variant
Prasanthi Namburi, Samer Khateb, Segev Meyer, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2007
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
Eyal Banin, Liliana Mizrahi-Meissonnier, Ruhama Neis, et al.
Genes
|
November 27, 2024
A Leaky Deep Intronic Splice Variant in <i>CLRN1</i> Is Associated with Non-Syndromic Retinitis Pigmentosa
Maria Abu Elasal, Samer Khateb, Daan M Panneman, et al.
Page
of 15