prof. dr. Bart Leroy
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
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Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function
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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
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Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement