年単位の研究成果
Fingerprint Hiroki Kurahashiが取り組む研究トピックをご確認ください。これらのトピックラベルは、この人物の研究に基づいています。これらを共に使用することで、固有の認識が可能になります。
- 11 同様のプロファイル
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
ネットワーク
最近の共同研究。丸をクリックして詳細を確認しましょう。
研究成果 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, ： : Brain and Development. 41, 3, p. 280-284 5 p.研究成果: Article
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, ： : Brain and Development. 41, 3, p. 285-291 7 p.研究成果: Article
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, ： : Asian Journal of Andrology. 21, 1, p. 101-103 3 p.研究成果: Letter
Chromosomes
Corrigendum to “Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.” [Int. J. Cardiol., 274 (2019) 290–295](S0167527318323283)(10.1016/j.ijcard.2018.09.032)
Hayano, S., Okuno, Y., Tsutsumi, M., Inagaki, H., Fukasawa, Y., Kurahashi, H., Kojima, S., Takahashi, Y. & Kato, T., 01-10-2019, ： : International Journal of Cardiology. 292, 1 p.研究成果: Comment/debate
公開
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; 巻数 43).研究成果: Chapter
Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease