Show 50 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 "C-OXIDASE DEFICIENCY" Add to list Journal Article A1 open access New insights into the phenotype of FARS2 deficiency Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet (UGent) , Sarah Vergult (UGent) , Boel De Paepe (UGent) , Sara Seneca, et al. (2017) MOLECULAR GENETICS AND METABOLISM. 122(4). p.172-181 Add to list Journal Article A1 Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2) Arnaud Vanlander (UGent) , Björn Menten (UGent) , Joél Smet (UGent) , Linda De Meirleir, Tom Sante (UGent) , Boel De Paepe (UGent) , Sara Seneca, Sarah F Pearce, Christopher A Powell, Sarah Vergult (UGent) , et al. (2015) HUMAN MUTATION. 36(2). p.222-231 Add to list Journal Article A1 SLO2, a mitochondrial pentatricopeptide repeat protein affecting several RNA editing sites, is required for energy metabolism Qiang Zhu (UGent) , Jasper Dugardeyn (UGent) , Chunji Zhang, Mizuki Takenaka, Kristina Kühn, Christian Craddock, Jan Smalle, Michael Karampelias, Jurgen Denecke, Janny Peters, et al. (2012) PLANT JOURNAL. 71(5). p.836-849 Add to list Journal Article A1 Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene L De Meirleir, S Seneca, E Damis, B Sepulchre, Anne Hoorens (UGent) , E Gerlo, MTG Silva, EM Hernandez, W Lissens and Rudy Van Coster (UGent) (2003) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 121A(2). p.126-131