未登录.png)
分享.png)
收藏分享 收藏 分享 收藏 Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variantsTANGO2缺乏症的肌肉和甲状腺表现：一种新型双等位基因变异的病例研究
Sugiyama, Ryo; Shimizu-Motohashi, Yuko; Sakata, Yuka; Omata, Taku; Takanashi, Jun-ichi; Furukawa, Shogo; Nakashima, Mitsuko; Saitsu, Hirotomo; Sato, Noriko; Komaki, Hirofumi 分享 收藏 分享 收藏 Pathomechanism of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion evaluated by MR spectroscopyYasukohchi, Madoka; Omata, Taku; Ochiai, Kenta; Sano, Kentaro; Murofushi, Yuka; Kimura, Sho; Takase, Nanako; Honda, Takafumi; Yasukawa, Kumi; Takanashi, Jun-ichi 分享 收藏 International consensus definitions for infection-triggered encephalopathy syndromesSakuma, Hiroshi; Thomas, Terrence; Debinski, Carly; Eyre, Michael; Han, Velda X.; Jones, Hannah F.; Kawano, Go; Lee, Vanessa W.; Malone, Stephen; Matsuishi, Toyojiro; Mohammad, Shekeeb S.; Mori, Takayuki; Nishida, Hiroya; Nosadini, Margherita; Takanashi, Jun-ichi; Mizuguchi, Masashi; Lim, Ming; Dale, Russell C. 分享 收藏 分享 收藏 Factors influencing the development of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusionYasukohchi, Madoka; Omata, Taku; Ochiai, Kenta; Sano, Kentaro; Murofushi, Yuka; Kimura, Sho; Takase, Nanako; Honda, Takafumi; Yasukawa, Kumi; Takanashi, Jun-ichi 分享 收藏 Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological studyKasai, Mariko; Sakuma, Hiroshi; Abe, Yuichi; Kuki, Ichiro; Maegaki, Yoshihiro; Murayama, Kei; Murofushi, Yuka; Nagase, Hiroaki; Nishiyama, Masahiro; Okumura, Akihisa; Sakai, Yasunari; Tada, Hiroko; Mizuguchi, Masashi; Takanashi, Jun-ichi 分享 收藏 A Brain Morphometry Study with Across-Site Harmonization Using a ComBat-Generalized Additive Model in Children and AdolescentsShiohama, Tadashi; Maikusa, Norihide; Kawaguchi, Masahiro; Natsume, Jun; Hirano, Yoshiyuki; Saito, Keito; Takanashi, Jun-ichi; Levman, Jacob; Takahashi, Emi; Matsumoto, Koji; Yokota, Hajime; Hattori, Shinya; Tsujimura, Keita; Sawada, Daisuke; Uchida, Tomoko; Takatani, Tomozumi; Fujii, Katsunori; Naganawa, Shinji; Sato, Noriko; Hamada, Hiromichi; Glaudemans, Andor W. J. M. 分享 收藏 分享 收藏 Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2Sakuma, Hiroshi; Takanashi, Jun-ichi; Muramatsu, Kazuhiro; Kondo, Hidehito; Shiihara, Takashi; Suzuki, Motomasa; Okanari, Kazuo; Kasai, Mariko; Mitani, Osamu; Nakazawa, Tomoyuki; Omata, Taku; Shimoda, Konomi; Abe, Yuichi; Maegaki, Yoshihiro; Murayama, Kei; Murofushi, Yuka; Nagase, Hiroaki; Okumura, Akihisa; Sakai, Yasunari; Tada, Hiroko; Mizuguchi, Masashi 分享 收藏 分享 收藏 POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophyKashiki, 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 分享 收藏 Prenatal clinical manifestations in individuals with COL4A1/2 variantsItai, Toshiyuki; Miyatake, Satoko; Taguri, Masataka; Nozaki, Fumihito; Ohta, Masayasu; Osaka, Hitoshi; Morimoto, Masafumi; Tandou, Tomoko; Nohara, Fumikatsu; Takami, Yuichi; Yoshioka, Fumitaka; Shimokawa, Shoko; Okuno-Yuguchi, Jiu; Motobayashi, Mitsuo; Takei, Yuko; Fukuyama, Tetsuhiro; Kumada, Satoko; Miyata, Yohane; Ogawa, Chikako; Maki, Yuki; Togashi, Noriko; Ishikura, Teruyuki; Kinoshita, Makoto; Mitani, Yusuke; Kanemura, Yonehiro; Omi, Tsuyoshi; Ando, Naoki; Hattori, Ayako; Saitoh, Shinji; Kitai, Yukihiro; Hirai, Satori; Arai, Hiroshi; Ishida, Fumihiko; Taniguchi, Hidetoshi; Kitabatake, Yasuji; Ozono, Keiichi; Nabatame, Shin; Smigiel, Robert; Kato, Mitsuhiro; Tanda, Koichi; Saito, Yoshihiko; Ishiyama, Akihiko; Noguchi, Yushi; Miura, Mazumi; Nakano, Takaaki; Hirano, Keiko; Honda, Ryoko; Kuki, Ichiro; Takanashi, Jun-ichi; Takeuchi, Akihito; Fukasawa, Tatsuya; Seiwa, Chizuru; Harada, Atsuko; Yachi, Yusuke; Higashiyama, Hiroyuki; Terashima, Hiroshi; Kumagai, Tadayuki; Hada, Satoshi; Abe, Yoshiichi; Miyagi, Etsuko; Uchiyama, Yuri; Fujita, Atsushi; Imagawa, Eri; Azuma, Yoshiteru; Hamanaka, Kohei; Koshimizu, Eriko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi 分享 收藏 分享 收藏 分享 收藏 Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyTakata, 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 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png)
BRAIN & DEVELOPMENT.png)
