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Articles (17)

Journals (0)

1-10 of 17 results for ocular albinism

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Select article: Female Carrier of Ocular Albinism Linked to Gpr143 Gene

Retricted access

Case report

First published 2026-1

Female Carrier of Ocular Albinism Linked to Gpr143 Gene

Erin Flynn, Isha Cheela, Talia R. Kaden

Journal of VitreoRetinal Diseases

Select article: Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice

Free access

Research article

First published 2008-3

Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice

P. Vogel, R. W. Read, R. B. Vance [...]

Veterinary Pathology

Select article: Hypoplastic Corpus Callosum in Ocular Albinism: Indication of a Global Disturbance of Neuronal Migration

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Research article

First published 1990-10

Hypoplastic Corpus Callosum in Ocular Albinism: Indication of a Global Disturbance of Neuronal Migration

John B. Bodensteiner, Lenore Breen, Terry L. Schwartz [...]

Journal of Child Neurology

Select article: Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism

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Research article

First published 2009-1

Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism

Y. Wang, X. Guo, A. Wei [...]

European Journal of Ophthalmology

Select article: GPR143 Mutational Analysis in Two Italian Families with X-Linked Ocular Albinism

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Research article

First published 2009-08

GPR143 Mutational Analysis in Two Italian Families with X-Linked Ocular Albinism

Lucia Micale, Bartolomeo Augello, Carmela Fusco [...]

Genetic Testing and Molecular Biomarkers

Select article: Diagnostic DNA Testing for X-Linked Ocular Albinism ( OA1 ) with a Hierarchical Mutation Screening Protocol

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Research article

First published 2002-03

Diagnostic DNA Testing for X-Linked Ocular Albinism ( OA1 ) with a Hierarchical Mutation Screening Protocol

M. Hegde, R.A. Lewis, C.S. Richards

Genetic Testing and Molecular Biomarkers

Select article: CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient

Open access

Research article

First published 2022-06

CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient

Simona Torriano

The CRISPR Journal

Select article: An Introduction to Access Technology for People with Ocular Albinism

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Research article

First published 2018-11

An Introduction to Access Technology for People with Ocular Albinism

Ike Presley

Journal of Visual Impairment & Blindness

Select article: Comprehensive Review of the Genetics of Albinism

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Research article

First published 2018-11

Comprehensive Review of the Genetics of Albinism

Ramon Jauregui, Laryssa A. Huryn, Brian P. Brooks

Journal of Visual Impairment & Blindness

Select article: Assessment of eye movements and selected vision function tests in three pupils with albinism: A case study in Tanzania

Open access

Research article

First published 2022-5

Assessment of eye movements and selected vision function tests in three pupils with albinism: A case study in Tanzania

Gunvor B Wilhelmsen, Mads Gjerstad Eide, Marion Felder

British Journal of Visual Impairment

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