Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

por Asakura, Yuta, Osaka, Hitoshi, Aoi, Hiromi, Mizuguchi, Takeshi, Matsumoto, Naomichi, Yamagata, Takanori
Publicado 2021

Nonsense variants of STAG2 result in distinct congenital anomalies

por Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
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