prof. dr. Bert Callewaert
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- Journal Article
- A1
- open access
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability
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- Journal Article
- A1
- open access
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
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- Journal Article
- A1
- open access
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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LTBP1 promotes fibrillin incorporation into the extracellular matrix
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- Journal Article
- A1
- open access
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
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Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings
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Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
- Conference Paper
- C3
- open access
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene