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TitleAuthors Date of Issue
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndromeYamamura, Tomohiko; Nozu, Kandai; Minamikawa, Shogo; Horinouchi, Tomoko; Sakakibara, Nana; Nagano, China; Aoto, Yuya; Ishiko, Shinya; Nakanishi, Koichi; Shima, Yuko; Nagase, Hiroaki; Rossanti, Rini; Ye, Ming J.; Nozu, Yoshimi; Ishimori, Shingo; Morisada, Naoya; Kaito, Hiroshi; Iijima, KazumotoSep-2019
Comprehensive genetic diagnosis of Japanese patients with severe proteinuriaNagano, China; Yamamura, Tomohiko; Horinouchi, Tomoko; Aoto, Yuya; Ishiko, Shinya; Sakakibara, Nana; Shima, Yuko; Nakanishi, Koichi; Nagase, Hiroaki; Iijima, Kazumoto; Nozu, Kandai14-Jan-2020
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assayHorinouchi, Tomoko; Nozu, Kandai; Yamamura, Tomohiko; Minamikawa, Shogo; Nagano, China; Sakakibara, Nana; Nakanishi, Koichi; Shima, Yuko; Morisada, Naoya; Ishiko, Shinya; Aoto, Yuya; Nagase, Hiroaki; Takeda, Hiroki; Rossanti, Rini; Kaito, Hiroshi; Matsuo, Masafumi; Iijima, Kazumoto3-Sep-2019
Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assayHorinouchi, Tomoko; Yamamura, Tomohiko; Minamikawa, Shogo; Nagano, China; Sakakibara, Nana; Nakanishi, Koichi; Shima, Yuko; Morisada, Naoya; Ishiko, Shinya; Aoto, Yuya; Nagase, Hiroaki; Takeda, Hiroki; Rossanti, Rini; Ishimori, Shingo; Kaito, Hiroshi; Matsuo, Masafumi; Iijima, Kazumoto; Nozu, Kandai2020

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