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 1B78AE82-F0EE-11E1-A9DE-61C894A0A6B4 or (type any "bookEditor issueEditor" and edito... cql: keyword exact "amaurosis" Add to list Journal Article A1 open access Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290 Dyon Valkenburg, Caroline Van Cauwenbergh (UGent) , Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Jan-Willem R Pott, Frauke Coppieters (UGent) , Julie De Zaeytijd (UGent) , Alberta AHJ Thiadens, Caroline CW Klaver, et al. (2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(11). p.4384-4391 Add to list Journal Article A1 open access Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1 Frauke Coppieters (UGent) , Anne Laure Todeschini, Takuro Fujimaki, Annelot Baert (UGent) , Marieke De Bruyne (UGent) , Caroline Van Cauwenbergh (UGent) , Hannah Verdin (UGent) , Miriam Bauwens (UGent) , Maté Ongenaert (UGent) , Mineo Kondo, et al. (2015) HUMAN MUTATION. 36(12). p.1188-1196