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1-6 of 6 results for CRB1 mutation

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Restricted accessResearch articleFirst published January, 2016

Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes

Rita Vámos, Maigi Külm, Viktoria Szabó [...]

European Journal of Ophthalmology

Open accessCase reportFirst published May, 2020

Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation

Jinghua Liu, Ying Liu, Liming Wang [...]

Journal of International Medical Research

Restricted accessCase reportFirst published July, 2022

Didanosine-Associated Retinal Toxicity in a Patient With a Mutation in the CRB1 Gene

Tamara L. Lenis, Benjamin W. Botsford, David Sarraf [...]

Journal of VitreoRetinal Diseases

Restricted accessCase reportFirst published October, 2020

Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients

Daniel J. Oh, Veeral Sheth, Gerald A. Fishman [...]

Journal of VitreoRetinal Diseases

Restricted accessResearch articleFirst published February, 2017

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

Hema L. Ramkumar, Harini V. Gudiseva, Kameron T. Kishaba [...]

Genetic Testing and Molecular Biomarkers

Restricted accessCase reportFirst published March, 2021

Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration

Elli A. Park, Rachel M. Huckfeldt, Jason I. Comander [...]

Journal of VitreoRetinal Diseases

Search results

Articles (6)

Journals (0)

1-6 of 6 results for CRB1 mutation

Sort by:

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Select all

Sort by:

Relevance

Restricted accessResearch articleFirst published January, 2016

Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes

Rita Vámos, Maigi Külm, Viktoria Szabó [...]

European Journal of Ophthalmology

Open accessCase reportFirst published May, 2020

Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation

Jinghua Liu, Ying Liu, Liming Wang [...]

Journal of International Medical Research

Restricted accessCase reportFirst published July, 2022

Didanosine-Associated Retinal Toxicity in a Patient With a Mutation in the CRB1 Gene

Tamara L. Lenis, Benjamin W. Botsford, David Sarraf [...]

Journal of VitreoRetinal Diseases

Restricted accessCase reportFirst published October, 2020

Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients

Daniel J. Oh, Veeral Sheth, Gerald A. Fishman [...]

Journal of VitreoRetinal Diseases

Restricted accessResearch articleFirst published February, 2017

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

Hema L. Ramkumar, Harini V. Gudiseva, Kameron T. Kishaba [...]

Genetic Testing and Molecular Biomarkers

Restricted accessCase reportFirst published March, 2021

Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration

Elli A. Park, Rachel M. Huckfeldt, Jason I. Comander [...]

Journal of VitreoRetinal Diseases