Hasil Pencarian - Ikumi Hori

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  1. 1
    De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

    De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences oleh Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu

    Diterbitkan 2019-09-01
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  2. 2
    Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

    Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy oleh Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh

    Diterbitkan 2019-12-01
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  3. 3
    Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients

    Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients oleh Masanori Fujimoto, Yuji Nakamura, Kana Hosoki, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Hideaki Shiraishi, Shinji Saitoh

    Diterbitkan 2024-10-01
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  4. 4
    Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

    Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement oleh Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh

    Diterbitkan 2017-06-01
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