prof. dr. Bart Leroy
- ORCID iD
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0000-0002-9899-2081
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Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study
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- Journal Article
- A1
- open access
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
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- Journal Article
- A1
- open access
A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
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Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features
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- Journal Article
- A1
- open access
Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute
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- Journal Article
- A1
- open access
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
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- Journal Article
- A1
- open access
Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review
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Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin
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Anterior scleral thickness in Marfan syndrome : a quantitative analysis
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ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.379-380