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- 2024
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Ophthalmic manifestations in children with tuberous sclerosis complex
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- Contribution to journal › Article
- 2023
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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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A novel phenotype associated with the R162W variant in the KCNJ13 gene
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- Contribution to journal › Article