Institute for Comprehensive Medical Science

Fingerprint Dive into the research topics where Institute for Comprehensive Medical Science is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Genes Medicine & Life Sciences
RNA Precursors Medicine & Life Sciences
Activins Medicine & Life Sciences
Proteins Medicine & Life Sciences
Knockout Mice Medicine & Life Sciences
Mutation Medicine & Life Sciences
Exons Medicine & Life Sciences
Follistatin Medicine & Life Sciences

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Research Output 1984 2019

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Tsuchiya, H., Akiyama, T., Kuhara, T., Nakajima, Y., Ohse, M., Kurahashi, H., Kato, T., Maeda, Y., Yoshinaga, H. & Kobayashi, K., 01-03-2019, In : Brain and Development. 41, 3, p. 280-284 5 p.

Research output: Contribution to journalArticle

Metabolome
Urine
Mutation
Fluorouracil
Metabolomics
1 Citation (Scopus)

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

Ishihara, N., Inagaki, H., Miyake, M., Kawamura, Y., Yoshikawa, T. & Kurahashi, H., 01-03-2019, In : Brain and Development. 41, 3, p. 285-291 7 p.

Research output: Contribution to journalArticle

Epilepsy
Mutation
Genes
Respiratory Insufficiency
Parents

A constitutional jumping translocation involving the y and acrocentric chromosomes

Tsutsumi, M., Fujita, N., Suzuki, F., Mishima, T., Fujieda, S., Watari, M., Takahashi, N., Tonoki, H., Moriwaka, O., Endo, T. & Kurahashi, H., 01-01-2019, In : Asian Journal of Andrology. 21, 1, p. 101-103 3 p.

Research output: Contribution to journalLetter

Chromosomes