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Novel USP9X variants in two patients with X-linked intellectual disability.
Tsurusaki Y, Kuroda Y, Yamanouchi Y, Kondo E, Ouchi K, Kimura Y, Enomoto Y, Aida N, Masuno M, Kurosawa K. Tsurusaki Y, et al. Among authors: kimura y. Hum Genome Var. 2019 Oct 21;6:49. doi: 10.1038/s41439-019-0081-7. eCollection 2019. Hum Genome Var. 2019. PMID: 31666975 Free PMC article.
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.
Sato Y, Shibasaki J, Aida N, Hiiragi K, Kimura Y, Akahira-Azuma M, Enomoto Y, Tsurusaki Y, Kurosawa K. Sato Y, et al. Among authors: kimura y. Hum Genome Var. 2018 Apr 24;5:4. doi: 10.1038/s41439-018-0005-y. eCollection 2018. Hum Genome Var. 2018. PMID: 29760938 Free PMC article.
Discordant phenotype caused by CASK mutation in siblings with NF1.
Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K. Murakami H, et al. Among authors: kimura y. Hum Genome Var. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0. eCollection 2019. Hum Genome Var. 2019. PMID: 31044082 Free PMC article.
Statin use and risk of Parkinson's disease among older adults in Japan: a nested case-control study using the Longevity Improvement and Fair Evidence study.
Ge S, Zha L, Kimura Y, Shimomura Y, Komatsu M, Gon Y, Komukai S, Murata F, Maeda M, Kiyohara K, Sobue T, Kitamura T, Fukuda H. Ge S, et al. Among authors: kimura y. Brain Commun. 2024 Jun 4;6(3):fcae195. doi: 10.1093/braincomms/fcae195. eCollection 2024. Brain Commun. 2024. PMID: 38894948 Free PMC article.
5,867 results