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- Journal Article
- A1
- open access
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
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- Journal Article
- A1
- open access
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
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- Journal Article
- A1
- open access
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
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Electrophysiological characterization of a Brugada syndrome SCN5A Belgian founder mutation in induced pluripotent stem cell cardiomyocytes
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Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders
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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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Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database
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Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
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The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype
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Two novel probands with Myhre syndrome identified through WES