• 5453 Citations
  • 39 h-Index
1986 …2019
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Research Output 1986 2019

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Comment/debate
2018
1 Citation (Scopus)

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Fukuma, M., Takagi, M., Shimazu, T., Imamura, H., Yagi, H., Nishimura, G. & Hasegawa, T., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 3, p. 193-196 4 p.

Research output: Contribution to journalComment/debate

Mutation
Spondyloperipheral dysplasia short ulna
1 Citation (Scopus)

A pediatric case of insulinoma and a novel MEN1 mutation: The efficacy of the combination therapy of diazoxide and cornstarch

Nakano, S., Sato, T., Hosokawa, M., Takagi, C., Yoshida, F., Ishii, T., Sato, S. & Hasegawa, T., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 3, p. 197-199 3 p.

Research output: Contribution to journalComment/debate

Multiple Endocrine Neoplasia Type 1
Diazoxide
Insulinoma
Starch
Pediatrics
2017
2 Citations (Scopus)

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency

Takagi, M., Kamasaki, H., Yagi, H., Fukuzawa, R., Narumi, S. & Hasegawa, T., 2017, In : Endocrine Journal. 64, 2, p. 229-234 6 p.

Research output: Contribution to journalComment/debate

Protein Isoforms
Mutation
Exons
RNA Splice Sites
Homeobox Genes