Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Source
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
Source
Frontiers in genetics - ISSN 1664-8021-14 (2023) p. 1-7
Novel association of the NOTCH pathway regulator MIB1 gene with the development of bicuspid aortic valve
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JAMA cardiology - ISSN 2380-6583-8:8 (2023) p. 721-731
SMAD6-deficiency in human genetic disorders
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Npj genomic medicine - ISSN 2056-7944-7:1 (2022) p. 1-11
The genetics and typical traits of thoracic aortic aneurysm and dissection
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Annual review of genomics and human genetics - ISSN 1527-8204-23 (2022) p. 223-253