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HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: kosaki k. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014
Monozygotic twins of Smith-Magenis syndrome.
Kosaki R, Okuyama T, Tanaka T, Migita O, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2007 Apr 1;143A(7):768-9. doi: 10.1002/ajmg.a.31647. Am J Med Genet A. 2007. PMID: 17345621 No abstract available.
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887345 No abstract available.
Multiple café au lait spots in familial patients with MAP2K2 mutation.
Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K. Takenouchi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311457 Review.
512 results