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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
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Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population
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Unraveling the genetic landscape of foot arch morphology : a systematic review of single nucleotide polymorphisms
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In memory of Ludwine Messiaen, Ph.D. (1956-2024)
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- Journal Article
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Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform
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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
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- Journal Article
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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene