HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

by Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder, Isabel Diebold
Published 2021-03-01

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

by Anne K. Braczynski, Stefan Vlaho, Klaus Müller, Ilka Wittig, Anna-Eva Blank, Dominique S. Tews, Ulrich Drott, Stephanie Kleinle, Angela Abicht, Rita Horvath, Karl H. Plate, Werner Stenzel, Hans H. Goebel, Andreas Schulze, Patrick N. Harter, Matthias Kieslich, Michel Mittelbronn
Published 2015-01-01