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 802001086941 or (type any "bookEditor issueEditor" and editor exact 802001086941) cql: keyword exact "phenotype" Add to list Journal Article A1 open access Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model Wouter Steyaert (UGent) , Shana Verschuere (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent) (2021) JOURNAL OF GENETICS AND GENOMICS. 48(4). p.289-299 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 Journal Article A1 open access Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum Mohammad Jakir Hosen (UGent) , Filip Van Nieuwerburgh (UGent) , Wouter Steyaert (UGent) , Dieter Deforce (UGent) , Ludovic Martin, Georges Leftheriotis, Anne De Paepe (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent) (2015) JOURNAL OF INVESTIGATIVE DERMATOLOGY. 135(4). p.992-998