A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

por Fukuma, Mami, Takagi, Masaki, Shimazu, Tomoyuki, Imamura, Hoseki, Yagi, Hiroko, Nishimura, Gen, Hasegawa, Tomonobu
Publicado 2018

Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly

por Kinoshita, Yuya, Ueno, Hiroe, Kurata, Hirofumi, Ikeda, Chizuru, Hori, Erika, Okada, Takumi, Shimazu, Tomoyuki, Fujii, Isao, Matsukura, Makoto, Imamura, Hoseki
Publicado 2022

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

por Kashiki, Hitoshi, Li, Heng, Miyamoto, Sachiko, Ueno, Hiroe, Tsurusaki, Yoshinori, Ikeda, Chizuru, Kurata, Hirofumi, Okada, Takumi, Shimazu, Tomoyuki, Imamura, Hoseki, Enomoto, Yumi, Takanashi, Jun-ichi, Kurosawa, Kenji, Saitsu, Hirotomo, Inoue, Ken
Publicado 2020