1. AKT3 and PIK3R2 mutations in two patients with megalencephaly‐related syndromes: MCAP and MPPH. (10th June 2013) Authors: Nakamura, K.; Kato, M.; Tohyama, J.; Shiohama, T.; Hayasaka, K.; Nishiyama, K.; Kodera, H.; Nakashima, M.; Tsurusaki, Y.; Miyake, N.; Matsumoto, N.; Saitsu, H. Journal: Clinical genetics Issue: Volume 85:Number 4(2014:Apr.) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. (29th April 2014) Authors: Nakajima, J.; Okamoto, N.; Tohyama, J.; Kato, M.; Arai, H.; Funahashi, O.; Tsurusaki, Y.; Nakashima, M.; Kawashima, H.; Saitsu, H.; Matsumoto, N.; Miyake, N. Journal: Clinical genetics Issue: Volume 87:Number 4(2015:Apr.) Page Start: 356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗