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Marfanoid habitus with abnormal situs.
Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. Kosaki K, et al. Am J Med Genet A. 2004 Jun 15;127A(3):310-2. doi: 10.1002/ajmg.a.30022. Am J Med Genet A. 2004. PMID: 15150786
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.
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K. Maruoka R, et al. Among authors: kosaki k. Genet Test Mol Biomarkers. 2014 Nov;18(11):722-35. doi: 10.1089/gtmb.2014.0109. Epub 2014 Oct 17. Genet Test Mol Biomarkers. 2014. PMID: 25325900 Free PMC article. Clinical Trial.
513 results