Showing 1 - 6 results of 6 for search 'Hirotomo Saitsu', query time: 0.02s Refine Results
  1. 1
    Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases

    Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases by Jaemoon Shin, Toyofumi Fujiwara, Hirotomo Saitsu, Atsuko Yamaguchi

    Published 2025-02-01
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  2. 2
    Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature

    Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature by Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata

    Published 2024-01-01
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  3. 3
    Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5

    Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5 by Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, Sachiko Miyamoto, Mitsuko Nakashima, Hirotomo Saitsu

    Published 2024-12-01
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  4. 4
    Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review

    Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review by Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata

    Published 2025-01-01
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  5. 5
    Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma

    Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma by Rei Ishikawa, Hidetaka Yamada, Hirotomo Saitsu, Ryosuke Miyazaki, Juri Takahashi, Rino Takinami, Satoshi Baba, Mitsuko Nakashima, Moriya Iwaizumi, Satoshi Osawa, Hideya Kawasaki, Yoshifumi Arai, Yoshiro Otsuki, Hiroshi Ogawa, Hiroki Mori, Fumihiko Tanioka, Shioto Suzuki, Kazuyo Yasuda, Makoto Suzuki, Haruhiko Sugimura, Kazuya Shinmura

    Published 2025-08-01
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  6. 6
    Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

    Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome by Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hamed, Mustafa A Salih, Saeed Al Tala, Mais O Hashem, Hiroko Tada, Hirotomo Saitsu, Mariano Stabile, Paolo Giacobini, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S Alkuraya, Binnaz Yalcin, Juliette D Godin

    Published 2024-11-01
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