1. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Issue 5 (25th October 2018) Authors: Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Mag... Journal: Annals of neurology Issue: Volume 84:Issue 5(2018) Page Start: 788 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. Issue 12 (31st July 2021) Authors: Kushary, Sulagna Tina; Revah‐Politi, Anya; Barua, Subit; Ganapathi, Mythily; Accogli, Andrea; Aggarwal, Vimla; Brunetti‐Pierri, Nicola; Cappuccio, Gerarda; Capra, Valeria; Fagerberg, Christina R.; Gazdagh, Gabriella; Guzman, Edwin; Hadonou, Medard; Harrison, Victoria; Havelund, Kathrine; Iancu, D... Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗