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- open access
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
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- Journal Article
- A1
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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
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Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study
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A multi-omics approach increases the diagnostic yield 'beyond the exome' in unsolved patients with inherited eye diseases
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.838-838 -
- Journal Article
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Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience
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- Conference Paper
- C3
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Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
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- Conference Paper
- C3
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Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
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High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation
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Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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- Journal Article
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- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy