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TitleAuthors Date of Issue
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosisYamamura, Tomohiko; Nozu, Kandai; Miyoshi, Yuya; Nakanishi, Keita; Fujimura, Junya; Horinouchi, Tomoko; Minamikawa, Shogo; Mori, Nobuo; Fujimaru, Rika; Nakanishi, Koichi; Ninchoji, Takeshi; Kaito, Hiroshi; Taniguchi-Ikeda, Mariko; Morioka, Ichiro; Matsuo, Masafumi; Iijima, Kazumoto4-Dec-2017
Clinical and Genetic Characteristics in Patients With Gitelman SyndromeFujimura, Junya; Nozu, Kandai; Yamamura, Tomohiko; Minamikawa, Shogo; Nakanishi, Keita; Horinouchi, Tomoko; Nagano, China; Sakakibara, Nana; Nakanishi, Koichi; Shima, Yuko; Miyako, Kenichi; Nozu, Yoshimi; Morisada, Naoya; Nagase, Hiroaki; Ninchoji, Takeshi; Kaito, Hiroshi; Iijima, KazumotoJan-2019
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
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

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