Hasil Pencarian - Toshiyuki Itai

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  1. 1
    Cerebrovascular diseases in two patients with entire NSD1 deletion

    Cerebrovascular diseases in two patients with entire NSD1 deletion oleh Toshiyuki Itai, Satoko Miyatake, Taku Hatano, Nobutaka Hattori, Atsuko Ohno, Yusuke Aoki, Kazuya Itomi, Harushi Mori, Hirotomo Saitsu, Naomichi Matsumoto

    Diterbitkan 2021-05-01
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  2. 2
    DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development

    DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development oleh Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M. Weinberg, Nandita Mukhopadhyay, Mary L. Marazita, Lukas M. Simon, Peilin Jia, Zhongming Zhao

    Diterbitkan 2024-07-01
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  3. 3
    Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts

    Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts oleh Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W. Curtis, Elizabeth J. Leslie, Lukas M. Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao

    Diterbitkan 2024-07-01
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  4. 4
    Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes

    Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes oleh Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto

    Diterbitkan 2023-03-01
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  5. 5
    A novel NONO variant that causes developmental delay and cardiac phenotypes

    A novel NONO variant that causes developmental delay and cardiac phenotypes oleh Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto

    Diterbitkan 2023-01-01
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  6. 6
    Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

    Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants oleh Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto

    Diterbitkan 2022-04-01
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  7. 7
    Clinical and genetic characteristics of patients with Doose syndrome

    Clinical and genetic characteristics of patients with Doose syndrome oleh Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato

    Diterbitkan 2020-09-01
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  8. 8
    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy oleh Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

    Diterbitkan 2019-06-01
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