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- Journal Article
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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
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- Journal Article
- A1
- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
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Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study
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Mapping the 3D genome of the human retina and its role in retinal disease
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.57-57 -
Structural variants disrupt a critical regulatory region downstream of FOXG1
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.28-28 -
Differential 3D genome topology shapes the regulatory landscapes of IRD genes in human neural retina and retinal pigment epithelium
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Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci
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- Journal Article
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Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec
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- Conference Paper
- C3
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An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy