1. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. Issue 6 (30th April 2013) Authors: Classen, Sabrina; Goecke, Timm; Drechsler, Matthias; Betz, Beate; Nickel, Natalie; Beier, Manfred; Schaper, Jörg; Karenfort, Michael; Royer‐Pokora, Brigitte Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Issue 4 (2nd January 2023) Authors: Averdunk, Luisa; Al‐Thihli, Khalid; Surowy, Harald; Lüdecke, Hermann‐Josef; Drechsler, Matthias; Yigit, Gökhan; Smorag, Lukasz; Al Hallak, Bassam; Li, Yun; Altmüller, Janine; Guthoff, Tanja; Wallot, Michael; Nürnberg, Peter; Wollnik, Bernd; Jamra, Rami Abou; Al‐Maawali, Almundher; Wieczorek, Dagmar Journal: Clinical genetics Issue: Volume 103:Issue 4(2023) Page Start: 484 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗