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Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson diseaseLoss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.TGF-β signalopathies as a paradigm for translational medicine.Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.Aetiology and management of hereditary aortopathy.Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.Genetic Testing in Thoracic Aortic Disease—When, Why, and How?FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literatureROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysmAortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrumBi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndromeOverlapping but distinct roles for NOTCH receptors in human cardiovascular diseaseNovel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotypeAortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literatureConfirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathyCopy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing geneGenetic 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 HSpontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention
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onderzoeker
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հետազոտող
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A Verstraeten
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