• 783 Citations
  • 15 h-Index
20092020

Research output per year

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Research Output

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

  • Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

    Kosaki, R., Kubota, M., Uehara, T., Suzuki, H., Takenouchi, T. & Kosaki, K., 2020 Jul 1, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1601-1607 7 p.

    Research output: Contribution to journalArticle

  • Open Access
  • Hypercoagulopathy Associated with Uniparental Disomy of Chromosome 2

    Takenouchi, T., Yamada, T., Kashiwagi, Y., Yamaguchi, Y., Uehara, T. & Kosaki, K., 2020 Jul 1, In : Journal of Pediatric Hematology/Oncology. 42, 5, p. 370-371 2 p.

    Research output: Contribution to journalLetter