1. Clinical utility of exome sequencing in a pediatric epilepsy cohort. Issue 4 (21st February 2023) Authors: Graifman, Jordana L.; Lippa, Natalie C.; Mulhern, Maureen S.; Bergner, Amanda L.; Sands, Tristan T. Journal: Epilepsia Issue: Volume 64:Issue 4(2023) Page Start: 986 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) ↗