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 3B6D0260-F0EE-11E1-A9DE-61C894A0A6B4 cql: author exact 0A9FDCDE-F0EE-11E1-A9DE-61C894A0A6B4 Add to list Journal Article A1 Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia Sofie Symoens (UGent) , Aileen M Barnes, Charlotte Gistelinck (UGent) , Fransiska Malfait (UGent) , Brecht Guillemyn (UGent) , Wouter Steyaert (UGent) , Delfien Syx (UGent) , Sanne D'hondt (UGent) , Martine Biervliet, Julie De Backer (UGent) , et al. (2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(4). p.521-534 Add to list Journal Article A1 open access Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans Sofie Symoens (UGent) , Fransiska Malfait (UGent) , Sanne D'hondt (UGent) , Bert Callewaert (UGent) , Annelies Dheedene (UGent) , Wouter Steyaert (UGent) , Hans Peter Bächinger, Anne De Paepe (UGent) , Hulya Kayserili and Paul Coucke (UGent) (2013) ORPHANET JOURNAL OF RARE DISEASES. 8.