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收藏分享 收藏 分享 收藏 Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis在具有类似Noonan综合征表型但无颅缝早闭的个体中，ERF基因的错义突变和截短变异。
Goto, Yusuke; Niihori, Tetsuya; Mizuno, Seiji; Okamoto, Nobuhiko; Ogata, Tsutomu; Kurosawa, Kenji; Ohashi, Hirofumi; Matsubara, Yoichi; Abe, Taiki; Kikuchi, Atsuo; Aoki, Yoko 分享 收藏 分享 收藏 First-in-human clinical study of an embryonic stem cell product for urea cycle disorders胚胎干细胞产品用于尿素循环障碍的首个人体临床试验Umezawa, Akihiro; Fukuda, Akinari; Horikawa, Reiko; Uchida, Hajime; Enosawa, Shin; Oishi, Yoshie; Nakamura, Naoko; Sasaki, Kengo; Yanagi, Yusuke; Shimizu, Seiichi; Nakao, Toshimasa; Kodama, Tasuku; Sakamoto, Seisuke; Hayakawa, Itaru; Akiyama, Saeko; Saku, Noriaki; Miyata, Shoko; Ite, Kenta; Javaregowda, Palaksha Kanive; Toyoda, Masashi; Nonaka, Hidenori; Nakamura, Kazuaki; Ito, Yoshikazu; Fukuhara, Yasuyuki; Miyazaki, Osamu; Nosaka, Shunsuke; Nakabayashi, Kazuhiko; Haga, Chizuko; Yoshioka, Takako; Masuda, Akira; Ohkura, Takashi; Yamazaki-Inoue, Mayu; Machida, Masakazu; Abutani-Sakamoto, Rie; Miyajima, Shoko; Akutsu, Hidenori; Matsubara, Yoichi; Igarashi, Takashi; Kasahara, Mureo 分享 收藏 Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysisKawai, Yosuke; Watanabe, Yusuke; Omae, Yosuke; Miyahara, Reiko; Khor, Seik-Soon; Noiri, Eisei; Kitajima, Koji; Shimanuki, Hideyuki; Gatanaga, Hiroyuki; Hata, Kenichiro; Hattori, Kotaro; Iida, Aritoshi; Ishibashi-Ueda, Hatsue; Kaname, Tadashi; Kanto, Tatsuya; Matsumura, Ryo; Miyo, Kengo; Noguchi, Michio; Ozaki, Kouichi; Sugiyama, Masaya; Takahashi, Ayako; Tokuda, Haruhiko; Tomita, Tsutomu; Umezawa, Akihiro; Watanabe, Hiroshi; Yoshida, Sumiko; Goto, Yu-ichi; Maruoka, Yutaka; Matsubara, Yoichi; Niida, Shumpei; Mizokami, Masashi; Tokunaga, Katsushi 分享 收藏 STAT6 gain-of-function variant exacerbates multiple allergic symptomsTakeuchi, Ichiro; Yanagi, Kumiko; Takada, Shuji; Uchiyama, Toru; Igarashi, Arisa; Motomura, Kenichiro; Hayashi, Yuka; Nagano, Naoko; Matsuoka, Ryo; Sugiyama, Hiroki; Yoshioka, Takako; Saito, Hirohisa; Kawai, Toshinao; Miyaji, Yumiko; Inuzuka, Yusuke; Matsubara, Yoichi; Ohya, Yukihiro; Shimizu, Toshiaki; Matsumoto, Kenji; Arai, Katsuhiro; Nomura, Ichiro; Kaname, Tadashi; Morita, Hideaki 分享 收藏 Premature aging syndrome showing random chromosome number instabilities with CDC20 mutationFujita, Harumi; Sasaki, Takashi; Miyamoto, Tatsuo; Akutsu, Silvia Natsuko; Sato, Showbu; Mori, Takehiko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Suzuki, Hisato; Kosaki, Kenjiro; Matsuura, Shinya; Matsubara, Yoichi; Amagai, Masayuki; Kubo, Akiharu 分享 收藏 Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verrucaOiso, Naoki; Kubo, Akiharu; Shimizu, Akira; Suzuki, Hisato; Kosaki, Kenjiro; Chikugo, Takaaki; Nakabayashi, Kazuhiko; Hata, Kenichiro; Yanagihara, Shigeto; Ishikawa, Osamu; Matsubara, Yoichi; Amagai, Masayuki; Kawada, Akira 分享 收藏 Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant HeterozygotesKubo, Akiharu; Sasaki, Takashi; Suzuki, Hisato; Shiohama, Aiko; Aoki, Satomi; Sato, Showbu; Fujita, Harumi; Ono, Noriko; Umegaki-Arao, Noriko; Kawai, Tomoko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Yamada, Daisuke; Matsubara, Yoichi; Kosaki, Kenjiro; Amagai, Masayuki 分享 收藏 KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetesUshijima, Kikumi; Narumi, Satoshi; Ogata, Tsutomu; Yokota, Ichiro; Sugihara, Shigetaka; Kaname, Tadashi; Horikawa, Yukio; Matsubara, Yoichi; Fukami, Maki; Kawamura, Tomoyuki 分享 收藏 The desmosome is a mesoscale lipid raft-like membrane domainLewis, Joshua D.; Caldara, Amber L.; Zimmer, Stephanie E.; Stahley, Sara N.; Seybold, Anna; Strong, Nicole L.; Frangakis, Achilleas S.; Levental, Ilya; Wahl, James K., III; Mattheyses, Alexa L.; Sasaki, Takashi; Nakabayashi, Kazuhiko; Hata, Kenichiro; Matsubara, Yoichi; Ishida-Yamamoto, Akemi; Amagai, Masayuki; Kubo, Akiharu; Kowalczyk, Andrew P. 分享 收藏 Recurrent de novo MAPK8IP3 variants cause neurological phenotypesIwasawa, Shinya; Yanagi, Kumiko; Kikuchi, Atsuo; Kobayashi, Yasuko; Haginoya, Kazuhiro; Matsumoto, Hiroshi; Kurosawa, Kenji; Ochiai, Masayuki; Sakai, Yasunari; Fujita, Atsushi; Miyake, Noriko; Niihori, Tetsuya; Shirota, Matsuyuki; Funayama, Ryo; Nonoyama, Shigeaki; Ohga, Shouichi; Kawame, Hiroshi; Nakayama, Keiko; Aoki, Yoko; Matsumoto, Naomichi; Kaname, Tadashi; Matsubara, Yoichi; Shoji, Wataru; Kure, Shigeo 分享 收藏 分享 收藏 Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexesUmeki, Ikumi; Niihori, Tetsuya; Abe, Taiki; Kanno, Shin-ichiro; Okamoto, Nobuhiko; Mizuno, Seiji; Kurosawa, Kenji; Nagasaki, Keisuke; Yoshida, Makoto; Ohashi, Hirofumi; Inoue, Shin-ichi; Matsubara, Yoichi; Fujiwara, Ikuma; Kure, Shigeo; Aoki, Yoko 分享 收藏 Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusionOhki, Kentaro; Kiyokawa, Nobutaka; Saito, Yuya; Hirabayashi, Shinsuke; Nakabayashi, Kazuhiko; Ichikawa, Hitoshi; Momozawa, Yukihide; Okamura, Kohji; Yoshimi, Ai; Ogata-Kawata, Hiroko; Sakamoto, Hiromi; Kato, Motohiro; Fukushima, Keitaro; Hasegawa, Daisuke; Fukushima, Hiroko; Imai, Masako; Kajiwara, Ryosuke; Koike, Takashi; Komori, Isao; Matsui, Atsushi; Mori, Makiko; Moriwaki, Koichi; Noguchi, Yasushi; Park, Myoung-ja; Ueda, Takahiro; Yamamoto, Shohei; Matsuda, Koichi; Yoshida, Teruhiko; Matsumoto, Kenji; Hata, Kenichiro; Kubo, Michiaki; Matsubara, Yoichi; Takahashi, Hiroyuki; Fukushima, Takashi; Hayashi, Yasuhide; Koh, Katsuyoshi; Manabe, Atsushi; Ohara, Akira 分享 收藏 Identification and molecular characterization of a CDC20 mutation in a novel mosaic variegated aneuploidy syndrome with premature aging phenotypesFujita, H.; Sasaki, T.; Miyamoto, T.; Mori, T.; Nakabayashi, K.; Hata, K.; Matsuura, S.; Matsubara, Y.; Amagai, M.; Kubo, A. 分享 收藏 Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five PatientsKawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo 分享 收藏 Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersMizuguchi, Takeshi; Nakashima, Mitsuko; Kato, Mitsuhiro; Okamoto, Nobuhiko; Kurahashi, Hirokazu; Ekhilevitch, Nina; Shiina, Masaaki; Nishimura, Gen; Shibata, Takashi; Matsuo, Muneaki; Ikeda, Tae; Ogata, Kazuhiro; Tsuchida, Naomi; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Hata, Kenichiro; Kaname, Tadashi; Matsubara, Yoichi; Saitsu, Hirotomo; Matsumoto, Naomichi 分享 收藏 
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