• 5921 Citations
  • 41 h-Index
1991 …2019
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Fingerprint Dive into the research topics where Hiroki Kurahashi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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

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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
Open Access
Supravalvular Aortic Stenosis
Elastin
Exons
Manuscripts
Emotions

Disruption of the responsible gene in a phosphoglucomutase 1 deficiency patient by homozygous chromosomal inversion

Yokoi, K., Nakajima, Y., Oe, T., Inagaki, H., Wada, Y., Fukuda, T., Sugie, H., Yuasa, I., Ito, T. & Kurahashi, H., 01-01-2019, JIMD Reports. Springer, p. 85-90 6 p. (JIMD Reports; vol. 43).

Research output: Chapter in Book/Report/Conference proceedingChapter

Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease