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 "Autosomal dominant" Add to list Journal Article A1 open access Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa Sarah Naessens, Laurien Ruysschaert, Steve Lefever (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent) (2019) GENES. 10. 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 The spectrum of ocular phenotypes caused by mutations in the BEST1 gene Camiel JF Boon, B Jeroen Klevering, Bart Leroy (UGent) , Carel B Hoyng, Jan EE Keunen and Anneke I den Hollander (2009) PROGRESS IN RETINAL AND EYE RESEARCH. 28(3). p.187-205 Add to list Journal Article A1 Familial dyskeratotic comedones Nanja van Geel (UGent) , M Kockaert and HA Neumann (1999) BRITISH JOURNAL OF DERMATOLOGY. 140(5). p.956-959