A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome

por Itai, Toshiyuki, Ishikawa, Hiroshi, Kurosawa, Kenji, Tsuyusaki, Yu
Publicado 2018

Cerebrovascular diseases in two patients with entire NSD1 deletion

por Itai, Toshiyuki, Miyatake, Satoko, Hatano, Taku, Hattori, Nobutaka, Ohno, Atsuko, Aoki, Yusuke, Itomi, Kazuya, Mori, Harushi, Saitsu, Hirotomo, Matsumoto, Naomichi
Publicado 2021

A novel NONO variant that causes developmental delay and cardiac phenotypes

por Itai, Toshiyuki, Sugie, Atsushi, Nitta, Yohei, Maki, Ryuto, Suzuki, Takashi, Shinkai, Yoichi, Watanabe, Yoshihiro, Nakano, Yusuke, Ichikawa, Kazushi, Okamoto, Nobuhiko, Utsuno, Yasuhiro, Koshimizu, Eriko, Fujita, Atsushi, Hamanaka, Kohei, Uchiyama, Yuri, Tsuchida, Naomi, Miyake, Noriko, Misawa, Kazuharu, Mizuguchi, Takeshi, Miyatake, Satoko, Matsumoto, Naomichi
Publicado 2023

Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes

por Itai, Toshiyuki, Sugie, Atsushi, Nitta, Yohei, Maki, Ryuto, Suzuki, Takashi, Shinkai, Yoichi, Watanabe, Yoshihiro, Nakano, Yusuke, Ichikawa, Kazushi, Okamoto, Nobuhiko, Utsuno, Yasuhiro, Koshimizu, Eriko, Fujita, Atsushi, Hamanaka, Kohei, Uchiyama, Yuri, Tsuchida, Naomi, Miyake, Noriko, Misawa, Kazuharu, Mizuguchi, Takeshi, Miyatake, Satoko, Matsumoto, Naomichi
Publicado 2023

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

por Hamanaka, Kohei, Miyake, Noriko, Mizuguchi, Takeshi, Miyatake, Satoko, Uchiyama, Yuri, Tsuchida, Naomi, Sekiguchi, Futoshi, Mitsuhashi, Satomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamada, Kohei, Sakamoto, Masamune, Fukuda, Hiromi, Ohori, Sachiko, Saida, Ken, Itai, Toshiyuki, Azuma, Yoshiteru, Koshimizu, Eriko, Fujita, Atsushi, Erturk, Biray, Hiraki, Yoko, Ch’ng, Gaik-Siew, Kato, Mitsuhiro, Okamoto, Nobuhiko, Takata, Atsushi, Matsumoto, Naomichi
Publicado 2022

Clinical and genetic characteristics of patients with Doose syndrome

por Hinokuma, Nodoka, Nakashima, Mitsuko, Asai, Hideyuki, Nakamura, Kazuyuki, Akaboshi, Shinjiro, Fukuoka, Masataka, Togawa, Masami, Oana, Shingo, Ohno, Koyo, Kasai, Mariko, Ogawa, Chikako, Yamamoto, Kazuna, Okumiya, Kiyohito, Chong, Pin Fee, Kira, Ryutaro, Uchino, Shumpei, Fukuyama, Tetsuhiro, Shinagawa, Tomoe, Miyata, Yohane, Abe, Yuichi, Hojo, Akira, Kobayashi, Kozue, Maegaki, Yoshihiro, Ishikawa, Nobutsune, Ikeda, Hiroko, Amamoto, Masano, Mizuguchi, Takeshi, Iwama, Kazuhiro, Itai, Toshiyuki, Miyatake, Satoko, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro
Publicado 2020

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

por Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazuhiro, Takeshita, Saoko, Kuki, Ichiro, Okanishi, Tohru, Goto, Tomohide, Sasaki, Masayuki, Sakai, Yasunari, Miyake, Noriko, Miyatake, Satoko, Tsuchida, Naomi, Iwama, Kazuhiro, Minase, Gaku, Sekiguchi, Futoshi, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Uchiyama, Yuri, Hamanaka, Kohei, Ohba, Chihiro, Itai, Toshiyuki, Aoi, Hiromi, Saida, Ken, Sakaguchi, Tomohiro, Den, Kouhei, Takahashi, Rina, Ikeda, Hiroko, Yamaguchi, Tokito, Tsukamoto, Kazuki, Yoshitomi, Shinsaku, Oboshi, Taikan, Imai, Katsumi, Kimizu, Tomokazu, Kobayashi, Yu, Kubota, Masaya, Kashii, Hirofumi, Baba, Shimpei, Iai, Mizue, Kira, Ryutaro, Hara, Munetsugu, Ohta, Masayasu, Miyata, Yohane, Miyata, Rie, Takanashi, Jun-ichi, Matsui, Jun, Yokochi, Kenji, Shimono, Masayuki, Amamoto, Masano, Takayama, Rumiko, Hirabayashi, Shinichi, Aiba, Kaori, Matsumoto, Hiroshi, Nabatame, Shin, Shiihara, Takashi, Kato, Mitsuhiro, Matsumoto, Naomichi
Publicado 2019