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: affiliation exact GE18 cql: author exact 001996006281 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 Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa Frauke Coppieters (UGent) , Bart Leroy (UGent) , DIANE BEYSEN (UGent) , Jan Hellemans, Karolien De Bosscher (UGent) , Guy Haegeman (UGent) , KIRSTEN ROBBERECHT (UGent) , Wim Wuyts, Paul Coucke (UGent) and Elfride De Baere (UGent) (2007) AMERICAN JOURNAL OF HUMAN GENETICS. 81(1). p.147-157