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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
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- Journal Article
- A1
- open access
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
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- Conference Paper
- C3
- open access
More than 125 FOXL2 mutations and variants in BPES and POF patients in the human FOXL2 allelic variant database