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: keyword exact "COLLAGEN MUTATION DATABASE" Add to list Journal Article A1 open access Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families Osama Essawi (UGent) , Sofie Symoens (UGent) , Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert (UGent) , Tamer Essawi, Bert Callewaert (UGent) , Anne De Paepe (UGent) , Fransiska Malfait (UGent) , et al. (2018) MOLECULAR GENETICS & GENOMIC MEDICINE. 6(1). p.15-26 Add to list Journal Article A1 Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure Sofie Symoens (UGent) , David JS Hulmes, Jean-Marie Bourhis, Paul Coucke (UGent) , Anne De Paepe (UGent) and Fransiska Malfait (UGent) (2014) HUMAN MUTATION. 35(11). p.1330-1341 Add to list Miscellaneous Clinical utility gene card for: osteogenesis imperfecta Fleur van Dijk, Raymond Dalgleish, Fransiska Malfait (UGent) , Alessandra Maugeri, Agnieszka Rusinska, Oliver Semler, Sofie Symoens (UGent) and Gerard Pals (2013) EUROPEAN JOURNAL OF HUMAN GENETICS. 21(6). Add to list Journal Article A1 EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta Fleur van Dijk, Peter Byers, Raymond Dalgleish, Fransiska Malfait (UGent) , Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens (UGent) , Erik Sistermans and Gerard Pals (2012) EUROPEAN JOURNAL OF HUMAN GENETICS. 20(1). p.11-19