1. A novel remitting leukodystrophy associated with a variant in FBP2. Issue 2 (11th March 2021) Authors: Gizak, Agnieszka; Diegmann, Susann; Dreha-Kulaczewski, Steffi; Wiśniewski, Janusz; Duda, Przemysław; Ohlenbusch, Andreas; Huppke, Brenda; Henneke, Marco; Höhne, Wolfgang; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Rakus, Dariusz; Gärtner, Jutta; Huppke, Peter Journal: Brain communications Issue: Volume 3:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition. Issue 9 (7th June 2022) Authors: Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La ... Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2652 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗