• 783 Citations
  • 15 h-Index
20092020

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2020

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

2019

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

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