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

Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Pre-Eclampsia Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Meiosis Medicine & Life Sciences
Kidney Medicine & Life Sciences
Chromosomes, Human, Pair 22 Medicine & Life Sciences
Human Herpesvirus 6 Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1991 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

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