1. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. Issue 8 (3rd June 2015) Authors: Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassa... Journal: Journal of medical genetics Issue: Volume 52:Issue 8(2015) Page Start: 541 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) ↗