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A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K. Tamiya G, et al. Among authors: ueki m. Am J Hum Genet. 2014 Sep 4;95(3):294-300. doi: 10.1016/j.ajhg.2014.07.013. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152455 Free PMC article.
The confounding effect of cryptic relatedness for environmental risks of systolic blood pressure on cohort studies.
Shibata K, Hozawa A, Tamiya G, Ueki M, Nakamura T, Narimatsu H, Kubota I, Ueno Y, Kato T, Yamashita H, Fukao A, Kayama T; Yamagata University Genomic Cohort Consortiuma. Shibata K, et al. Among authors: ueki m. Mol Genet Genomic Med. 2013 May;1(1):45-53. doi: 10.1002/mgg3.4. Epub 2013 Apr 3. Mol Genet Genomic Med. 2013. PMID: 24498600 Free PMC article.
Growth impairment in individuals with citrin deficiency.
Numakura C, Tamiya G, Ueki M, Okada T, Maisawa SI, Kojima-Ishii K, Murakami J, Horikawa R, Tokuhara D, Ito K, Adachi M, Abiko T, Mitsui T, Hayasaka K. Numakura C, et al. Among authors: ueki m. J Inherit Metab Dis. 2019 May;42(3):501-508. doi: 10.1002/jimd.12051. Epub 2019 Feb 4. J Inherit Metab Dis. 2019. PMID: 30715743
Outlier detection for questionnaire data in biobanks.
Sakurai R, Ueki M, Makino S, Hozawa A, Kuriyama S, Takai-Igarashi T, Kinoshita K, Yamamoto M, Tamiya G. Sakurai R, et al. Among authors: ueki m. Int J Epidemiol. 2019 Aug 1;48(4):1305-1315. doi: 10.1093/ije/dyz012. Int J Epidemiol. 2019. PMID: 30848787
587 results