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 "stargardt-disease" Add to list Journal Article A1 open access ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al. (2019) GENETICS IN MEDICINE. 21(8). p.1761-1771 Add to list Journal Article A1 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis Suzanne Yzer, Bart Leroy (UGent) , Elfride De Baere (UGent) , Thomy J de Ravel, Marijke N Zonneveld, Krysta Voesenek, Ulrich Kellner, Jose P Martinez Ciriano, Jan-Tjeerd HN de Faber, Klaus Rohrschneider, et al. (2006) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 47(3). p.1167-1176