1. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Issue 2 (6th October 2017) Authors: Yoshida, M.; Nakashima, M.; Okanishi, T.; Kanai, S.; Fujimoto, A.; Itomi, K.; Morimoto, M.; Saitsu, H.; Kato, M.; Matsumoto, N.; Chiyonobu, T. Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy. Issue 2 (18th September 2017) Authors: Tsuchida, N.; Nakashima, M.; Miyauchi, A.; Yoshitomi, S.; Kimizu, T.; Ganesan, V.; Teik, K.W.; Ch'ng, G.‐S.; Kato, M.; Mizuguchi, T.; Takata, A.; Miyatake, S.; Miyake, N.; Osaka, H.; Yamagata, T.; Nakajima, H.; Saitsu, H.; Matsumoto, N. Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗