• 102 Citations
  • 6 h-Index
20112020

Research output per year

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

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Research Output

  • 102 Citations
  • 6 h-Index
  • 37 Article
  • 2 Letter
  • 2 Review article

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

  • A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

    Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K. & Takada, H., 2019 Nov 1, In : Clinical Case Reports. 7, 11, p. 2059-2063 5 p.

    Research output: Contribution to journalArticle

    Open Access
  • Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

    Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019 Jan 1, In : Endocrine journal. 66, 10, p. 853-857 5 p.

    Research output: Contribution to journalArticle

    Open Access
  • A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

    Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 Dec 1, In : Human Genome Variation. 6, 1, 25.

    Research output: Contribution to journalArticle

    Open Access