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 F831B6BC-F0ED-11E1-A9DE-61C894A0A6B4 or (type any "bookEditor journalEditor issueEdi... cql: keyword exact "leber congenital amaurosis" Add to list Journal Article A1 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy Frauke Coppieters (UGent) , Kristof Van Schil (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , Annelies De Jaegher (UGent) , Delfien Syx (UGent) , Tom Sante (UGent) , Steve Lefever (UGent) , Nouha Bouayed Abdelmoula, Fanny Depasse, et al. (2014) GENETICS IN MEDICINE. 16(9). p.671-680 Add to list Journal Article A1 Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis Frauke Coppieters (UGent) , Bram De Wilde (UGent) , Steve Lefever (UGent) , Ellen De Meester (UGent) , Nina De Rocker, Caroline Van Cauwenbergh (UGent) , Filip Pattyn (UGent) , Françoise Meire, Bart Leroy (UGent) , Jan Hellemans, et al. (2012) GENETICS IN MEDICINE. 14(6). p.576-585 Add to list Journal Article A1 CEP290, a gene with many faces : mutation overview and presentation of CEP290base Frauke Coppieters (UGent) , Steve Lefever (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent) (2010) HUMAN MUTATION. 31(10). p.1097-1108