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Ophthalmology
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January 25, 2015
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy
Lina Zelinger, Artur V Cideciyan, Susanne Kohl, et al.
Investigative Ophthalmology & Visual Science
|
May 31, 2002
Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases
Dror Sharon, Hiroyuki Yamamoto, Terri L McGee, et al.
Human Mutation
|
June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
Csilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.
Human Gene Therapy
|
July 8, 2010
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel
Eyal Banin, Dikla Bandah-Rozenfeld, Alexey Obolensky, et al.
Genes
|
July 29, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis
Sofia Kulyamzin, Rina Leibu, Hadas Newman, et al.
Investigative Ophthalmology & Visual Science
|
April 9, 2010
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population
Dikla Bandah-Rozenfeld, Karin W Littink, Tamar Ben-Yosef, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Zelia Corradi, Manar Salameh, Mubeen Khan, et al.
Investigative Ophthalmology & Visual Science
|
November 18, 2015
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa
Kristof Van Schil, B Jeroen Klevering, Bart P Leroy, et al.
Investigative Ophthalmology & Visual Science
|
April 13, 2026
The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population
Sapir Shalom, Libe Gradstein, Eran Pras, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 29, 2022
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
Talya Millo, Antonio Rivera, Alexey Obolensky, et al.
Page
of 15
Search research articles
Search
Showing results (101-110 of 150) with videos related to
Sort By:
Page
of 15
Ophthalmology
|
January 25, 2015
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy
Lina Zelinger, Artur V Cideciyan, Susanne Kohl, et al.
Investigative Ophthalmology & Visual Science
|
May 31, 2002
Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases
Dror Sharon, Hiroyuki Yamamoto, Terri L McGee, et al.
Human Mutation
|
June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
Csilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.
Human Gene Therapy
|
July 8, 2010
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel
Eyal Banin, Dikla Bandah-Rozenfeld, Alexey Obolensky, et al.
Genes
|
July 29, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis
Sofia Kulyamzin, Rina Leibu, Hadas Newman, et al.
Investigative Ophthalmology & Visual Science
|
April 9, 2010
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population
Dikla Bandah-Rozenfeld, Karin W Littink, Tamar Ben-Yosef, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Zelia Corradi, Manar Salameh, Mubeen Khan, et al.
Investigative Ophthalmology & Visual Science
|
November 18, 2015
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa
Kristof Van Schil, B Jeroen Klevering, Bart P Leroy, et al.
Investigative Ophthalmology & Visual Science
|
April 13, 2026
The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population
Sapir Shalom, Libe Gradstein, Eran Pras, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 29, 2022
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
Talya Millo, Antonio Rivera, Alexey Obolensky, et al.
Page
of 15