Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Japan Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Congenital Hypothyroidism Medicine & Life Sciences
Therapeutics Medicine & Life Sciences

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Research Output 1982 2019

A case of pseudohypoparathyroidism type ia with a novel frameshift mutation in the GNAS gene: Early diagnosis of osteoma cutis by skin biopsy

Kodo, K., Maeda, H., Morimoto, H., Wada, M., Imura, T. & Nakajima, H., 2019 Jan 1, In : Clinical Pediatric Endocrinology. 28, 1, p. 15-18 4 p.

Research output: Contribution to journalArticle

Pseudohypoparathyroidism
Frameshift Mutation
Early Diagnosis
Biopsy
Skin

A case report and literature review of monoallelic mutation of GHR

Mitani, M., Shima, H., Sato, T., Inoguchi, T., Kamimaki, T., Fukami, M. & Hasegawa, T., 2019 Jan 1, In : Journal of Pediatric Endocrinology and Metabolism.

Research output: Contribution to journalArticle

Mutation
Missense Mutation
Insulin-Like Growth Factor I
Computer Simulation
Growth Hormone

A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism

Hatabu, N., Katori, N., Sato, T., Maeda, N., Suzuki, E., Komiyama, O., Tsutsui, H., Nagao, T., Nakauchi-Takahashi, H., Matsunaga, T., Ishii, T., Hasegawa, T. & Yamazawa, K., 2019 Jan 1, In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Primary Hyperparathyroidism
Genes
Hypophosphatemia
Parathyroid Neoplasms
Parathyroidectomy