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441 results

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Page 1
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Nishimura G, et al. Among authors: makita y. J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722. J Med Genet. 2004. PMID: 14729840 Free PMC article. No abstract available.
Axial spondylometaphyseal dysplasia: additional reports.
Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. Suzuki S, et al. Among authors: makita y. Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910225
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K. Nagai T, et al. Among authors: makita y. J Med Genet. 2003 Apr;40(4):285-9. doi: 10.1136/jmg.40.4.285. J Med Genet. 2003. PMID: 12676901 Free PMC article. No abstract available.
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Kinoshita A, et al. Among authors: makita y. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241
441 results