1. Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. Issue 4 (15th December 2017) Authors: Taniguchi‐Ikeda, M.; Morisada, N.; Inagaki, H.; Ouchi, Y.; Takami, Y.; Tachikawa, M.; Satake, W.; Kobayashi, K.; Tsuneishi, S.; Takada, S.; Yamaguchi, H.; Nagase, H.; Nozu, K.; Okamoto, N.; Nishio, H.; Toda, T.; Morioka, I.; Wada, H.; Kurahashi, H.; Iijima, K. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗