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- 2023
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Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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- Contribution to journal › Article
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Mark
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing
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- Contribution to journal › Article
- 2022
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Mark
Dexamethasone eye-drops for treatment of retinopathy of prematurity
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- Contribution to journal › Article
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Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
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- Contribution to journal › Article
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Mark
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes
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- Contribution to journal › Article
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Mark
Full-Field Electroretinography Changes Associated with Age-Related Macular Degeneration : A Systematic Review with Meta-Analyses
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- Contribution to journal › Scientific review
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Mark
A novel phenotype associated with the R162W variant in the KCNJ13 gene
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- Contribution to journal › Article
- 2021
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Mark
Full-field electroretinography in age-related macular degeneration : an overall retinal response
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- Contribution to journal › Article
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Mark
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
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- Contribution to journal › Article
- 2020
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Mark
Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
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- Contribution to journal › Debate/Note/Editorial
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Mark
Long-term effects of hyperbaric oxygen therapy on visual acuity and retinopathy
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- Contribution to journal › Article
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Mark
Full-field Electroretinography in Age-related Macular Degeneration : can retinal electrophysiology predict the subjective visual outcome of cataract surgery?
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- Contribution to journal › Article
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Mark
Longitudinal changes of macular curvature in patients with retinitis pigmentosa
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- Contribution to journal › Article
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Mark
Clinical phenotype and course of PDE6A-associated retinitis pigmentosa disease, characterized in preparation for a gene supplementation trial
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- Contribution to journal › Article
- 2019
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Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
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- Contribution to journal › Letter
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Mark
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
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- Contribution to journal › Article
- 2018
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Mark
Presence of chronic diabetic foot ulcers is associated with more frequent and more advanced retinopathy
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- Contribution to journal › Article
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Mark
Cerebral Functional Magnetic Resonance Imaging and Multifocal Visual Evoked Potentials in a Patient with Unexplained Impairment of Visual Function : A Case Report
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- Contribution to journal › Article
- 2017
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Mark
The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
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- Contribution to journal › Article
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Mark
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
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- Contribution to journal › Article