prof. dr. Bert Callewaert
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Lessons learned from 40 novel PIGA patients and a review of the literature
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum
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- Journal Article
- A1
- open access
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
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A clinical scoring system for congenital contractural arachnodactyly
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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
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Disproportion and dysmorphism in an adult Belgian population with Turner syndrome : risk factors for chronic diseases?
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Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis