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收藏Isogenic modeling of 1q21.1 reciprocal CNVs in human ES cells reveals divergent neurodevelopmental trajectories同源模型研究人类ES细胞中1q21.1方向性CNV揭示不同的神经发育轨迹
Nomura, Yoshiko; Nomura, Jun; Tamada, Kota; Eguchi, Noriomi; Torigata, Kosuke; Tokumoto, Shoichi; Nemoto, Akisa; Shirafuji, Toshihiko; Yamamoto, Kana; Hishimoto, Akitoyo; Nagase, Hiroaki; Nishikawa, Toru; Takumi, Toru
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收藏Comparative study of Japanese nationwide epidemiological studies of myasthenia gravis using datasets of 2006 and 2018使用2006年和2018年数据集的日本全国重症肌无力流行病学研究比较研究
Yoshikawa, Hiroaki; Adachi, Yumi; Nakamura, Yosikazu; Kuriyama, Nagato; Murai, Hiroyuki; Nomura, Yoshiko; Sakai, Yasunari; Iwasa, Kazuo; Furukawa, Yutaka; Matsui, Makoto; Kuwabara, Satoshi
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收藏Charge substitutions at the voltage-sensing module of domain III enhance actions of site-3 and site-4 toxins on an insect sodium channel
Zhu, Qing; Du, Yuzhe; Nomura, Yoshiko; Gao, Rong; Cang, Zixuan; Wei, Guo-Wei; Gordon, Dalia; Gurevitz, Michael; Groome, James; Dong, Ke
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收藏Identification of multiple odorant receptors essential for pyrethrum repellency in Drosophila melanogaster
Wang, Qiang; Xu, Peng; Andreazza, Felipe; Liu, Yahui; Nomura, Yoshiko; Duran, Phil; Jiang, Lan; Chen, Mengli; Takamatsu, Genki; Ihara, Makoto; Matsuda, Kazuhiko; Isaacs, Rufus; Oliveira, Eugenio E.; Du, Yuzhe; Dong, Ke
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收藏ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
Aoto, Kazushi; Kato, Mitsuhiro; Akita, Tenpei; Nakashima, Mitsuko; Mutoh, Hiroki; Akasaka, Noriyuki; Tohyama, Jun; Nomura, Yoshiko; Hoshino, Kyoko; Ago, Yasuhiko; Tanaka, Ryuta; Epstein, Orna; Ben-Haim, Revital; Heyman, Eli; Miyazaki, Takehiro; Belal, Hazrat; Takabayashi, Shuji; Ohba, Chihiro; Takata, Atsushi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi; Saitsu, Hirotomo
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收藏Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Iwama, Kazuhiro; Mizuguchi, Takeshi; Takeshita, Eri; Nakagawa, Eiji; Okazaki, Tetsuya; Nomura, Yoshiko; Iijima, Yoshitaka; Kajiura, Ichiro; Sugai, Kenji; Saito, Takashi; Sasaki, Masayuki; Yuge, Kotaro; Saikusa, Tomoko; Okamoto, Nobuhiko; Takahashi, Satoru; Amamoto, Masano; Tomita, Ichiro; Kumada, Satoko; Anzai, Yuki; Hoshino, Kyoko; Fattal-Valevski, Aviva; Shiroma, Naohide; Ohfu, Masaharu; Moroto, Masaharu; Tanda, Koichi; Nakagawa, Tomoko; Sakakibara, Takafumi; Nabatame, Shin; Matsuo, Muneaki; Yamamoto, Akiko; Yukishita, Shoko; Inoue, Ken; Waga, Chikako; Nakamura, Yoko; Watanabe, Shoko; Ohba, Chihiro; Sengoku, Toru; Fujita, Atsushi; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Ito, Shuichi; Saitsu, Hirotomo; Matsuishi, Toyojiro; Goto, Yu-ichi; Matsumoto, Naomichi
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收藏A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course
Kuwabara, Kozue; Kawarai, Toshitaka; Ishida, Yasushi; Miyamoto, Ryosuke; Oki, Ryosuke; Orlacchio, Antonio; Nomura, Yoshiko; Fukuda, Mitsumasa; Ishii, Eiichi; Shintaku, Haruo; Kaji, Ryuji
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收藏Assured diagnostic critera of myasthenia gravis by the task force for evidence-based diagnostic and therapeutic algorithms for the national policy of intractable diseases of Japan
Yoshikawa, H.; Iwasa, K.; Kawaguchi, N.; Kira, J.; Kohriyama, T.; Kuriyama, N.; Matsuo, H.; Minami, N.; Murai, H.; Niino, M.; Nomura, K.; Nomura, Y.; Ogino, M.; Shimizu, Y.; Sonoo, M.; Suzuki, S.; Takeuchi, H.; Matsui, M.
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