Hasil Pencarian - Tomohiro Chiyonobu

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  1. 1
    Investigating Developmental and Epileptic Encephalopathy Using <i>Drosophila melanogaster</i>

    Investigating Developmental and Epileptic Encephalopathy Using <i>Drosophila melanogaster</i> oleh Akari Takai, Masamitsu Yamaguchi, Hideki Yoshida, Tomohiro Chiyonobu

    Diterbitkan 2020-09-01
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  2. 2
    Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

    Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient oleh Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu

    Diterbitkan 2024-02-01
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  3. 3
    Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation

    Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation oleh Jun Mori, Tatsuji Hasegawa, Yosuke Miyamoto, Kazumasa Kitamura, Hidechika Morimoto, Takenori Tozawa, Ritsuko Kimata Pooh, Tomohiro Chiyonobu

    Diterbitkan 2022-06-01
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  4. 4
    Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

    Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants oleh Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara

    Diterbitkan 2023-08-01
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  5. 5
    Cytomegalovirus-associated biliary atresia

    Cytomegalovirus-associated biliary atresia oleh Kazuki Kodo, Kenichi Sakamoto, Tomohiko Imai, Takeshi Ota, Mitsuru Miyachi, Jun Mori, Tomohiro Chiyonobu, Tetsuya Imura, Hajime Hosoi

    Diterbitkan 2018-08-01
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  6. 6
    Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant

    Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant oleh Akimasa Tomida, Tomohiro Chiyonobu, Shinsaku Tokuda, Mitsuru Miyachi, Kyoko Murashima, Makoto Hirata, Masanori Nakagawa, Tomoko Iehara, Junya Kuroda, Koichi Takayama

    Diterbitkan 2022-03-01
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  7. 7
    Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients.

    Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients. oleh Makiko Shinomoto, Takashi Kasai, Harutsugu Tatebe, Masaki Kondo, Takuma Ohmichi, Masafumi Morimoto, Tomohiro Chiyonobu, Naoto Terada, David Allsop, Isao Yokota, Toshiki Mizuno, Takahiko Tokuda

    Diterbitkan 2019-01-01
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  8. 8
    Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

    Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants oleh Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu

    Diterbitkan 2021-01-01
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  9. 9
    Increased levels of plasma total tau in adult Down syndrome.

    Increased levels of plasma total tau in adult Down syndrome. oleh Takashi Kasai, Harutsugu Tatebe, Masaki Kondo, Ryotaro Ishii, Takuma Ohmichi, Wing Tung Esther Yeung, Masafumi Morimoto, Tomohiro Chiyonobu, Naoto Terada, David Allsop, Masanori Nakagawa, Toshiki Mizuno, Takahiko Tokuda

    Diterbitkan 2017-01-01
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