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27 results

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Page 1
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.
Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, Murata Y, Ohyama Y, Matsuura N, Kasai K, Harada S, Kitanaka S, Takamatsu J, Kiwaki K, Ohye H, Uruno T, Tomoda C, Tajima T, Kuma K, Miyauchi A, Ieiri T. Hishinuma A, et al. Among authors: kiwaki k. J Clin Endocrinol Metab. 2006 Aug;91(8):3100-4. doi: 10.1210/jc.2005-2702. Epub 2006 May 23. J Clin Endocrinol Metab. 2006. PMID: 16720658
[Iodide organification defect].
Hishinuma A, Ieiri T, Fukata S, Nishi Y, Kiwaki K. Hishinuma A, et al. Among authors: kiwaki k. Nihon Rinsho. 2006 May 28;Suppl 1:360-2. Nihon Rinsho. 2006. PMID: 16776165 Review. Japanese. No abstract available.
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: kiwaki k. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T. Kurokawa K, et al. Among authors: kiwaki k. J Hum Genet. 2007;52(4):349-354. doi: 10.1007/s10038-007-0122-9. Epub 2007 Feb 20. J Hum Genet. 2007. PMID: 17310273
Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.
Matsuda I, Matsuura T, Nishiyori A, Komaki S, Hoshide R, Matsumoto T, Funakoshi M, Kiwaki K, Endo F, Hata A, Shimadzu M, Yoshino M. Matsuda I, et al. Among authors: kiwaki k. J Med Genet. 1996 Aug;33(8):645-8. doi: 10.1136/jmg.33.8.645. J Med Genet. 1996. PMID: 8863155 Free PMC article.
[Gene therapy for ornithine transcarbamylase deficiency].
Matsuda I, Kiwaki K, Komaki S, Hoshide R, Matsuura T, Endo F. Matsuda I, et al. Among authors: kiwaki k. Tanpakushitsu Kakusan Koso. 1995 Dec;40(17):2759-64. Tanpakushitsu Kakusan Koso. 1995. PMID: 8584733 Review. Japanese. No abstract available.
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