1. Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Issue 2 (8th November 2017) Authors: Braunisch, M.C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski‐Feder, E.; Van Maldergem, L.; Lammens, M.; Kovács‐Nagy, R.; Alhaddad, B.; Strom, T.M.; Meitinger, T.; Senderek, J.; Rudnik‐Schöneborn, S.; Haack, T.B. Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗