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Case report

First published 2022-11

Pleiotropy of a Stickler syndrome genotype

Ahmad Baiyasi, Joshua Barbosa, Anthony Parendo [...]

European Journal of Ophthalmology

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Case report

First published 2021-5

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 ( RLBP1 ) gene causes retinitis punctata albescens

Sónia Torres-Costa, Carla Sofia Ferreira, Ana Grangeia [...]

European Journal of Ophthalmology

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Case report

First published 2025-1

Expanding the mutational and phenotypical spectrum of FHONDA syndrome

Bruno Magalhães Teixeira, Inês Figueiredo, Miguel Raimundo [...]

European Journal of Ophthalmology

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Research article

First published 2012-7

Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa

Mohamed Ksantini, Estèle Lafont, Béatrice Bocquet [...]

European Journal of Ophthalmology

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Research article

First published 2023-3

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

Natalia Lorenzana-Blanco, Belen Jimenez-Rolando, Blanca Garcia-Sandoval [...]

European Journal of Ophthalmology

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Other

First published 2015-3

Nasal Nitric Oxide in Patients with Inherited Retinal Dystrophies

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

Journal of Investigative Medicine

Free access

Research article

First published 2022-3

An inherited night blindness in Wiltshire sheep

Hayley Hunt, Keren E. Dittmer, Dorian J. Garrick [...]

Veterinary Pathology

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Research article

First published 2011-1

Alteration of Rod and Cone Function in Children with Usher Syndrome

Eva Malm, Vesna Ponjavic, Claes Möller [...]

European Journal of Ophthalmology

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Research article

First published 2022-9

Utility of No-Charge Panel Genetic Testing for Inherited Retinal Diseases in a Real-World Clinical Setting

Cynthia K. McClard, Dimitrios Pollalis, Farzad Jamshidi [...]

Journal of VitreoRetinal Diseases

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Case report

First published 2025-7

Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa

Josephine R. Seela, Jade Y. Moon, Sandra R. Montezuma

Journal of VitreoRetinal Diseases

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