Preclinical modeling of Loeys-Dietz syndrome : insights into mechanisms and therapy
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Orphanet journal of rare diseases - ISSN 1750-1172-21:1 (2026) p.
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals
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Journal of medical genetics - ISSN 0022-2593-62:3 (2025) p. 199-205
Investigation of strategies to block downstream effectors of AT1R-mediated signalling to prevent aneurysm formation in Marfan syndrome
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International journal of molecular sciences - ISSN 1661-6596-25:9 (2024) p. 1-12
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
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Journal of medical genetics - ISSN 0022-2593-61:4 (2024) p. 363-368
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier
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Frontiers in genetics - ISSN 1664-8021-14 (2023) p. 1-7