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="Makowski, Christine*" or (type exact bookEditor and editor="Makowski, Christine*") 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 open access Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency Uwe Ahting, Johannes A Mayr, Arnaud Vanlander (UGent) , Steven A Hardy, Saikat Santra, Christine Makowski, Charlotte L Alston, Franz A Zimmermann, Lucia Abela, Barbara Plecko, et al. (2015) FRONTIERS IN GENETICS. 6.