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="Ribes, Antonia*" or (type exact bookEditor and editor="Ribes, Antonia*") Add to list Journal Article A1 open access Clinical implementation of RNA sequencing for Mendelian disease diagnostics Vincente A YĆ©pez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, et al. (2022) GENOME MEDICINE. 14(1). Add to list Journal Article A1 Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2) Emmanuel Scalais, Ronit Chafai, Rudy Van Coster (UGent) , Lutz Bindl, Christian Nuttin, Chryssa Panagiotaraki, Sara Seneca, Willy Lissens, Antonia Ribes, Caroline Geers, et al. (2013) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 17(6). p.625-630