- ORCID iD
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0000-0001-6380-2471
- Bio (via ORCID)
- Clinical geneticist in training at the University Hospital of Ghent
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Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)
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- Journal Article
- A1
- open access
Foveal hypoplasia in Myhre syndrome : a novel association
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- Journal Article
- A1
- open access
Evaluating variants of uncertain significance in adult zebrafish via prime editing : a proof of concept with a COL1A2 variant
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Autosomal dominant transmission reframes reproductive counseling in Myhre syndrome : a novel family and literature review
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Tissue-specific 3D genome and splicing signatures of clinically accessible tissues inform sample selection for assessing the impact of genomic aberrations in neurodevelopmental disorders
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- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
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Evaluating variants of uncertain significance in adult knock-in zebrafish : a proof of concept with a COL1A2 variant
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Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example
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- Journal Article
- A1
- open access
Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations
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Olmesartan induced weight loss and small vessel vasculitis