• 5 Citations
  • 1 h-Index
1990 …2020

Research output per year

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Fingerprint Dive into the research topics where Mamiko Yamada is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • 5 Citations
  • 1 h-Index
  • 6 Article
  • 2 Letter
  • 1 Review article

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

Uehara, T., Yamada, M., Umetsu, S., Nittono, H., Suzuki, H., Fujisawa, T., Takenouchi, T., Inui, A. & Kosaki, K., 2020 Jun, In : Journal of Pediatrics. 221, p. 251-254 4 p.

Research output: Contribution to journalArticle

  • Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

    Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Inui, A., Ikemiyagi, M., Kamimaki, I. & Kosaki, K., 2020 Jul 1, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1631-1636 6 p.

    Research output: Contribution to journalArticle

  • CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

    Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalLetter

    Open Access
  • 1 Citation (Scopus)

    IFT172 as the 19th gene causative of oral-facial-digital syndrome

    Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M. & Kosaki, K., 2019 Dec 1, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2510-2513 4 p.

    Research output: Contribution to journalLetter