Show 15 5 10 15 20 50 100 250 Sort by year (new to old) Actions Save this search Download search results Subscribe to news feed Your filters: cql: author="Rorbach, Joanna" or (type any "bookEditor issueEditor" and editor="Rorbach, Joanna") Add to list Journal Article A1 Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander (UGent) , Daniele Ghezzi, Rosalba Carrozzo, Robert W Taylor, et al. (2014) AMERICAN JOURNAL OF HUMAN GENETICS. 95(6). p.708-720