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First published 2015-3

Nasal Nitric Oxide in Patients with Inherited Retinal Dystrophies

Enrico Heffler, Cristiana Marchese, Monica Boita [...]

Journal of Investigative Medicine

Open access

Review article

First published 2024-11

Inherited retinal dystrophies and orphan designations in the European Union

Jane Moseley, Tim Leest, Kristina Larsson [...]

European Journal of Ophthalmology

Retricted access

Review article

First published 2015-03

Dog Models for Blinding Inherited Retinal Dystrophies

Simon M. Petersen-Jones, András M. Komáromy

Human Gene Therapy Clinical Development

Open access

Review article

First published 2022-06

New Editing Tools for Gene Therapy in Inherited Retinal Dystrophies

Juliette Pulman, José-Alain Sahel, Deniz Dalkara

The CRISPR Journal

Retricted access

Research article

First published 2017-07

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes

Itzhak Braverman, Sergiu C. Blumen, Hadas Newman [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2023-3

Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies

Ravid Ben-Avi, Antonio Rivera, Karen Hendler [...]

European Journal of Ophthalmology

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Case report

First published 2022-1

A mutation in CRX causing pigmented paravenous retinochoroidal atrophy

Jin Kyun Oh, Yan Nuzbrokh, Winston Lee [...]

European Journal of Ophthalmology

Retricted access

Research article

First published 2017-02

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

Open access

Review article

First published 2021

The role of multimodal imaging and vision function testing in ABCA4 -related retinopathies and their relevance to future therapeutic interventions

Saoud Al-Khuzaei, Mital Shah, Charlotte R. Foster [...]

Therapeutic Advances in Ophthalmology

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Research article

First published 2026-3

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia

Renae L. Schroeder, Anna M. Fuller, Rachel R. Reith [...]

Veterinary Pathology

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