From silence to surge : illuminating the stealthy threat of aneurysms and dissections with the aid of cell models and insights into the genetic architecture

Source
Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2024,269 p.

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-9
Author(s)
    Josephina Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L.S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart Loeys

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
Author(s)