Phenotypic spectrum of the first Belgian MYBPC3 founder : a large multi-exon deletion with a varying phenotype
Source
Frontiers in genetics - ISSN 1664-8021-15 (2024) p. 1-15
Investigation of strategies to block downstream effectors of AT1R-mediated signalling to prevent aneurysm formation in Marfan syndrome
Source
International journal of molecular sciences - ISSN 1661-6596-25:9 (2024) p. 1-12
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-9
A human importin-β-related disorder : syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Source
The American journal of human genetics - ISSN 0002-9297-108:6 (2021) p. 1115-1125