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Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Among authors: morisaki t, morisaki h. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.
[Urate production and regulation].
Morisaki T, Morisaki H. Morisaki T, et al. Among authors: morisaki h. Nihon Rinsho. 2008 Apr;66(4):653-8. Nihon Rinsho. 2008. PMID: 18409510 Review. Japanese.
[AMPD genes and urate metabolism].
Morisaki H, Morisaki T. Morisaki H, et al. Among authors: morisaki t. Nihon Rinsho. 2008 Apr;66(4):771-7. Nihon Rinsho. 2008. PMID: 18409530 Review. Japanese.
A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.
Harada K, Miyamoto Y, Morisaki H, Ohta N, Yamanaka I, Kokubo Y, Makino H, Harada-Shiba M, Okayama A, Tomoike H, Okamura T, Saito Y, Yoshimasa Y, Morisaki T. Harada K, et al. Among authors: morisaki t, morisaki h. J Atheroscler Thromb. 2010 Feb 26;17(2):131-40. doi: 10.5551/jat.2873. Epub 2010 Feb 3. J Atheroscler Thromb. 2010. PMID: 20124734 Free article.
Proteinuria in AMPD2-deficient mice.
Toyama K, Morisaki H, Cheng J, Kawachi H, Shimizu F, Ikawa M, Okabe M, Morisaki T. Toyama K, et al. Among authors: morisaki t, morisaki h. Genes Cells. 2012 Jan;17(1):28-38. doi: 10.1111/j.1365-2443.2011.01568.x. Genes Cells. 2012. PMID: 22212473 Free article.
631 results