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- 2023
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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
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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
- 2022
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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
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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
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