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Advances in experimental medicine and biology - ISSN 0065-2598-1348 (2021) p. 251-264
A human importin-β-related disorder : syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
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The American journal of human genetics - ISSN 0002-9297-108:6 (2021) p. 1115-1125
Hide and seek: Somatic SMAD3 mutations in melorheostosis
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The journal of experimental medicine - ISSN 0022-1007-217:5 (2020) p. 1-3