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 001988169590 cql: author exact 000070696226 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 Conference Paper C3 Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development Sofie Symoens (UGent) , Aileen Barnes, Charlotte Gistelinck (UGent) , Fransiska Malfait (UGent) , Kris Vleminckx (UGent) , Brecht Guillemyn (UGent) , Delfien Syx (UGent) , Wouter Steyaert (UGent) , Eef Parthoens (UGent) , Martine Biervliet, et al. (2014) American Society of Human Genetics, 64th Annual meeting, Abstracts. Add to list Journal Article A1 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria Sofie Symoens (UGent) , Delfien Syx (UGent) , Fransiska Malfait (UGent) , Bert Callewaert (UGent) , Julie De Backer (UGent) , Olivier Vanakker (UGent) , Paul Coucke (UGent) and Anne De Paepe (UGent) (2012) HUMAN MUTATION. 33(10). p.1485-1493