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Case report

First published 2025-8

Abnormal cochlear enhancement in Norrie disease

Emil Jernstedt Barkovich, Suely Fazio Ferraciolli, Camilo Jaimes

The Neuroradiology Journal

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Other

First published 2006-04

Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis

Jodi A. Dodds, Anand K. Srivastava, Kenton R. Holden

Journal of Child Neurology

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Research article

First published 1999

Norrie Disease and Exudative Vitreoretinopathy in Families with Affected Female Carriers

B.S. Shastry, M. Hiraoka, D.C. Trese [...]

European Journal of Ophthalmology

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Other

First published 1987-04

Adrenoleukodystrophy: From Bedside to Molecular Biology

Hugo W. Moser

Journal of Child Neurology

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Review article

First published 2018-7

Gene Therapy for Inherited Retinopathies: Update on Development Progress

Susan Sun, Sandra R. Montezuma

Journal of VitreoRetinal Diseases

Open access

Review article

First published 2018

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

Andreas Mitsios, Adam M. Dubis, Mariya Moosajee

Therapeutic Advances in Ophthalmology

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Research article

First published 2019-3

Peripherally inserted central catheter with intracavitary electrocardiogram guidance: Malposition risk factors and indications for post-procedural control

Céline Monard, Mathilde Lefèvre, Fabien Subtil [...]

The Journal of Vascular Access

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Research article

First published 2017-02

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

Annalisa Nicoletti, Lucia Ziccardi, Paolo Enrico Maltese [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2007-7

Autologous Transplantation of Muscle-Derived CD133+ Stem Cells in Duchenne Muscle Patients

Y. Torrente, M. Belicchi, C. Marchesi [...]

Cell Transplantation

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Research article

First published 2005-7

Audiologic Features of Norrie Disease

Chris Halpin, Grace Owen, Gustavo A. Gutiérrez-Espeleta [...]

Annals of Otology,Rhinology & Laryngology

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