Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author exact F621FF76-F0ED-11E1-A9DE-61C894A0A6B4 cql: author exact 6F1A17A2-B25E-11E6-B104-2D2FD0AF0289 Add to list Journal Article A1 open access A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta Brecht Guillemyn (UGent) , Hülya Kayserili, Lynn Demuynck (UGent) , Patrick Sips (UGent) , Anne De Paepe (UGent) , Delfien Syx (UGent) , Paul Coucke (UGent) , Fransiska Malfait (UGent) and Sofie Symoens (UGent) (2019) HUMAN MOLECULAR GENETICS. 28(11). p.1801-1809 Add to list Journal Article A1 open access Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies Charlotte Gistelinck (UGent) , Ronald Y Kwon, Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Matthew P Harris, Katrin Henke, Michael B Hawkins, Shannon Fisher, Patrick Sips (UGent) , Brecht Guillemyn (UGent) , et al. (2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046