Lynn Demuynck Ghent University Hospital 1 – 3 of 3 publications Show 5 5 10 15 20 50 100 250 Sort by year (new to old) Actions Filter publications Download search results Subscribe to news feed 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 Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome Sofie Symoens (UGent) , Wouter Steyaert (UGent) , Lynn Demuynck (UGent) , Anne De Paepe (UGent) , Karin EM Diderich, Fransiska Malfait (UGent) and Paul Coucke (UGent) (2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 173(4). p.1047-1050 Add to list Conference Paper C3 Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome Sofie Symoens (UGent) , Wouter Steyaert (UGent) , Lynn Demuynck (UGent) , Fransiska Malfait (UGent) , Anne De Paepe (UGent) , Karin EM Diderich and Paul Coucke (UGent) (2015) American Society of Human Genetics, 65th Annual meeting, Abstracts.