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Newborn screening for Pompe disease in Japan.
Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Oda E, et al. Among authors: migita o. Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963784
Monozygotic twins of Smith-Magenis syndrome.
Kosaki R, Okuyama T, Tanaka T, Migita O, Kosaki K. Kosaki R, et al. Among authors: migita o. 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.
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Yaoita M, et al. Among authors: migita o. Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29. Hum Genet. 2016. PMID: 26714497
Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.
Sato T, Samura O, Matsuoka T, Yoshida M, Aoki H, Migita O, Okamoto A, Hata K. Sato T, et al. Among authors: migita o. Eur J Med Genet. 2019 Jun;62(6):103533. doi: 10.1016/j.ejmg.2018.08.014. Epub 2018 Aug 30. Eur J Med Genet. 2019. PMID: 30171908
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K. Narumi-Kishimoto Y, et al. Among authors: migita o. Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26. Eur J Med Genet. 2019. PMID: 30267900 Free article. No abstract available.
47 results