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- Journal Article
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- open access
HTAD patient pathway : strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) : a statement from the HTAD working group of VASCERN
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- Journal Article
- A1
- open access
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients