prof. dr. Olivier Vanakker
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- Conference Paper
- C3
- open access
Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster
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- Journal Article
- A1
- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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- Miscellaneous
- open access
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons (Jun, 10.1038/s41380-021-01234-7. 2021)
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Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the cardio(vascular) phenotype
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- Conference Paper
- C3
- open access
Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype
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- Journal Article
- A1
- open access
Rare modifier variants alter the severity of cardiovascular disease in pseudoxanthoma elasticum : identification of novel candidate modifier genes and disease pathways through mixture of effects analysis
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- Journal Article
- A1
- open access
Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in pseudoxanthoma elasticum
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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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- Journal Article
- A1
- open access
Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice