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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Utsuno, Yasuhiro, Hamada, Keisuke, Hamanaka, Kohei, Miyoshi, Keita, Tsuchimoto, Keiji, Sunada, Satoshi, Itai, Toshiyuki, Sakamoto, Masamune, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Fujita, Atsushi, Miyatake, Satoko, Misawa, Kazuharu, Mizuguchi, Takeshi, Kato, Yasuhito, Saito, Kuniaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Published in Journal of human genetics (01.02.2024)
Published in Journal of human genetics (01.02.2024)
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Journal Article
Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome
Nakano, Eiji, Yoshida, Amine, Miyama, Yudai, Yabuuchi, Tomoo, Kajiho, Yuko, Kanda, Shoichiro, Miura, Kenichiro, Oka, Akira, Harita, Yutaka
Published in Journal of human genetics (01.10.2020)
Published in Journal of human genetics (01.10.2020)
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Journal Article
3次元コラーゲンゲル環境で、リジル−tRNA合成酵素が発現したり発現しないように調節された細胞または回転楕円体で塊になった細胞培養を用いた癌転移抑制剤のスクリーニング方法
Year of Publication 30.06.2016
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Patent
青森県で栽培した西洋系,東洋系および中間型ニンジン品種における香気成分をはじめとする品質および生育の比較
池浦, 博美, 前田, 智雄, 小山内, 祥代, 本多, 和茂, Zadrak, Wambraw Daniel, 倉内, 佑, 髙橋, 啓太
Published in Engeigaku kenkyuu (2020)
Published in Engeigaku kenkyuu (2020)
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Journal Article