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 F606A6E0-F0ED-11E1-A9DE-61C894A0A6B4 cql: author exact F6AE9EC2-F0ED-11E1-A9DE-61C894A0A6B4 Add to list Journal Article A1 open access Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation Andy Willaert (UGent) , Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Kris Gevaert (UGent) , H. Kayserili, A. Megarbane, Geert Mortier (UGent) , J. G. Leroy, Paul Coucke (UGent) and Anne De Paepe (UGent) (2009) JOURNAL OF MEDICAL GENETICS. 46(4). p.233-241 Add to list Journal Article A1 Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis Jan Hellemans, O PREOBRAZHENSKA, Andy Willaert (UGent) , P DEBEER, PETER VERDONK, T COSTA, K JANSSENS, Björn Menten (UGent) , Nadine Van Roy (UGent) , Stefan Vermeulen (UGent) , et al. (2004) NATURE GENETICS. 36(11). p.1213-1218