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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 2018-02

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa

Shujin Li, Mu Yang, Wenjing Liu [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2007-7

Molecular Scanning of the ABCA4 Gene in Spanish Patients with Retinitis Pigmentosa and Stargardt Disease: Identification of Novel Mutations

S. Stenirri, S. Battistella, N. Soriani [...]

European Journal of Ophthalmology

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Other

First published 2007-11

A Novel PANK2 Gene Mutation: Clinical and Molecular Characteristics of Patients—Short Communication

Beata Kazek, Ewa Jamroz, Martin Gencik [...]

Journal of Child Neurology

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Case report

First published 2021-3

Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

Fabiana D’Esposito, Viviana Randazzo, Gilda Cennamo [...]

European Journal of Ophthalmology

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Research article

First published 2015-5

Nephronophthisis and Retinal Degeneration in Tmem218 –/– Mice

P. Vogel, C. M. Gelfman, T. Issa [...]

Veterinary Pathology

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Research article

First published 2023-07

Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa

Kecia L. Feathers, Lin Jia, Naheed W. Khan [...]

Human Gene Therapy

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Research article

First published 1995-2

Cochlear Implants in Young Children with Usher'S Syndrome

N. M. Young, J. C. Johnson, M. B. Mets [...]

Annals of Otology,Rhinology & Laryngology

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Research article

First published 2002-12

Hearing Loss in Usher Syndrome Type II is Nonprogressive

Christoph F. V. Reisser, William J. Kimberling, Christian R. Otterstedde

Annals of Otology,Rhinology & Laryngology

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Research article

First published 2012-04

Gene Therapy for Retinitis Pigmentosa Caused by MFRP Mutations: Human Phenotype and Preliminary Proof of Concept

Astra Dinculescu, Jackie Estreicher, Juan C. Zenteno [...]

Human Gene Therapy

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