Clinical research in families with inherited retinal degeneration
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- 2023
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Case report : Bilateral damage to the immature optic radiation and secondary massive loss of retinal ganglion cells causing tunnel vision
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- Contribution to journal › Article
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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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A novel phenotype associated with the R162W variant in the KCNJ13 gene
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- Contribution to journal › Article
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Low fraction of fetal haemoglobin is associated with retinopathy of prematurity in the very preterm infant
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- Contribution to journal › Article
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Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation
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- Contribution to journal › Article