檢索結果 - Mayumi Touyama

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  1. 1
    Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

    Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features 由 Yuriko Yoneda, Hirotomo Saitsu, Mayumi Touyama, Yoshio Makita, Akie Miyamoto, Keisuke Hamada, Naohiro Kurotaki, Hiroaki Tomita, Kiyomi Nishiyama, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kazuhiro Ogata, Kenji Naritomi, Naomichi Matsumoto

    出版 2012
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    Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

    Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency 由 Naohiro Kurotaki, Joseph Shen, Mayumi Touyama, Tatsuro Kondoh, Remco Visser, Takao Ozaki, Junji Nishimoto, Takashi Shiihara, Kimiaki Uetake, Yoshio Makita, Naoki Harada, Salmo Raskin, Chester Brown, Pia Höglund, Nobuhiko Okamoto, James R. Lupski

    出版 2005
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    Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

    Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion 由 Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyama, Ruthie Shenhav, Hirofumi Ohashi, Līvija Medne, Takashi Shiihara, Shigeyuki Ohtsu, Zen-ichiro Kato, Nobuhiko Okamoto, Junji Nishimoto, Dorit Lev, Yoko Miyoshi, Satoshi Ishikiriyama, Tohru Sonoda, Satoru Sakazume, Yoshimitsu Fukushima, Kenji Kurosawa, Jan‐Fang Cheng, Koh-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto

    出版 2003
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