Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

por Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi
Publicado 2019

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intelle...

por Yamada, Mamiko, Shiraishi, Yuichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Abe‐Hatano, Chihiro, Kurosawa, Kenji, Kosaki, Kenjiro
Publicado 2020

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

por Iida, Aritoshi, Takano, Kyoko, Takeshita, Eri, Abe-Hatano, Chihiro, Hirabayashi, Shinichi, Inaba, Yuji, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Inoue, Ken, Goto, Yu-ichi
Publicado 2019

Whole genome sequencing of 45 Japanese patients with intellectual disability

por Abe‐Hatano, Chihiro, Iida, Aritoshi, Kosugi, Shunichi, Momozawa, Yukihide, Terao, Chikashi, Ishikawa, Keiko, Okubo, Mariko, Hachiya, Yasuo, Nishida, Hiroya, Nakamura, Kazuyuki, Miyata, Rie, Murakami, Chie, Takahashi, Kan, Hoshino, Kyoko, Sakamoto, Haruko, Ohta, Sayaka, Kubota, Masaya, Takeshita, Eri, Ishiyama, Akihiko, Nakagawa, Eiji, Sasaki, Masayuki, Kato, Mitsuhiro, Matsumoto, Naomichi, Kamatani, Yoichiro, Kubo, Michiaki, Takahashi, Yoshiyuki, Natsume, Jun, Inoue, Ken, Goto, Yu‐Ichi
Publicado 2021