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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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Genetic counselling and testing in adults with congenital heart disease : a consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics
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Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export
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Enrichment of rare variants in Loeys-Dietz syndrome genes in spontaneous coronary artery dissection but not in severe fibromuscular dysplasia
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Bi-allelic loss-of-function mutations in the NPR-C receptor result in enhanced growth and connective tissue abnormalities