• 128 Citations
  • 6 h-Index
20112020

Research output per year

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Research Output

  • 128 Citations
  • 6 h-Index
  • 41 Article
  • 2 Letter
  • 2 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

  • Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

    Murakami, H., Uehara, T., Tsurusaki, Y., Enomoto, Y., Kuroda, Y., Aida, N., Kosaki, K. & Kurosawa, K., 2020 Jan 1, (Accepted/In press) In : Brain and Development.

    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

  • Novel ARX mutation identified in infantile spasm syndrome patient

    Takeshita, Y., Ohto, T., Enokizono, T., Tanaka, M., Suzuki, H., Fukushima, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2020 Dec 1, In : Human Genome Variation. 7, 1, 9.

    Research output: Contribution to journalArticle

    Open Access