Hasil Pencarian - Yoshiteru Azuma

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  1. 1
    Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report

    Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report oleh Ryosuke Miyamoto, Jun Sada, Koki Ota, Kenitiro Kaneko, Hironori Kusano, Yoshiteru Azuma, Akihisa Okumura

    Diterbitkan 2021-05-01
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  2. 2
    Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

    Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report oleh Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

    Diterbitkan 2024-08-01
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  3. 3
    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes oleh Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia

    Diterbitkan 2024-02-01
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  4. 4
    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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