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 3DE9E17A-F0EE-11E1-A9DE-61C894A0A6B4 cql: author exact 1DF89668-F0EE-11E1-A9DE-61C894A0A6B4 Add to list Journal Article A1 open access Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement Sabrina Mechaussier, Basamat Almoallem Mohammed (UGent) , Christina Zeitz, Kristof Van Schil (UGent) , Laila Jeddawi, Jo Van Dorpe (UGent) , Alfredo DueƱas Rey (UGent) , Christel Condroyer, Olivier Pelle, Michel Polak, et al. (2020) AMERICAN JOURNAL OF HUMAN GENETICS. 106(6). p.859-871 Add to list Conference Paper C3 Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene Basamat Almoallem Mohammed (UGent) , Kristof Van Schil (UGent) , Laila Jeddawi, Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent) (2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts. Add to list Conference Paper C3 Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene Basamat Almoallem Mohammed (UGent) , Kristof Van Schil (UGent) , Laila Jeddawi, Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent) (2017) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 58(8). p.1242-1242