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dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.
Ogishima S, Nagaie S, Mizuno S, Ishiwata R, Iida K, Shimokawa K, Takai-Igarashi T, Nakamura N, Nagase S, Nakamura T, Tsuchiya N, Nakaya N, Murakami K, Ueno F, Onuma T, Ishikuro M, Obara T, Mugikura S, Tomita H, Uruno A, Kobayashi T, Tsuboi A, Tadaka S, Katsuoka F, Narita A, Sakurai M, Makino S, Tamiya G, Aoki Y, Shimizu R, Motoike IN, Koshiba S, Minegishi N, Kumada K, Nobukuni T, Suzuki K, Danjoh I, Nagami F, Tanno K, Ohmomo H, Asahi K, Shimizu A, Hozawa A, Kuriyama S; Tohoku Medical Megabank Project Study Group; Fuse N, Tominaga T, Kure S, Yaegashi N, Kinoshita K, Sasaki M, Tanaka H, Yamamoto M. Ogishima S, et al. Among authors: makino s. Hum Genome Var. 2021 Dec 10;8(1):44. doi: 10.1038/s41439-021-00175-5. Hum Genome Var. 2021. PMID: 34887386 Free PMC article.
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: makino s. 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.
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.
Yasuda J, Kinoshita K, Katsuoka F, Danjoh I, Sakurai-Yageta M, Motoike IN, Kuroki Y, Saito S, Kojima K, Shirota M, Saigusa D, Otsuki A, Kawashima J, Yamaguchi-Kabata Y, Tadaka S, Aoki Y, Mimori T, Kumada K, Inoue J, Makino S, Kuriki M, Fuse N, Koshiba S, Tanabe O, Nagasaki M, Tamiya G, Shimizu R, Takai-Igarashi T, Ogishima S, Hozawa A, Kuriyama S, Sugawara J, Tsuboi A, Kiyomoto H, Ishii T, Tomita H, Minegishi N, Suzuki Y, Suzuki K, Kawame H, Tanaka H, Taki Y, Yaegashi N, Kure S, Nagami F; Tohoku Medical Megabank Project Study Group; Kosaki K, Sutoh Y, Hachiya T, Shimizu A, Sasaki M, Yamamoto M. Yasuda J, et al. Among authors: makino s. J Biochem. 2019 Feb 1;165(2):139-158. doi: 10.1093/jb/mvy096. J Biochem. 2019. PMID: 30452759
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: makino s. Int J Epidemiol. 2019 Aug 1;48(4):1305-1315. doi: 10.1093/ije/dyz012. Int J Epidemiol. 2019. PMID: 30848787
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.
Tadaka S, Katsuoka F, Ueki M, Kojima K, Makino S, Saito S, Otsuki A, Gocho C, Sakurai-Yageta M, Danjoh I, Motoike IN, Yamaguchi-Kabata Y, Shirota M, Koshiba S, Nagasaki M, Minegishi N, Hozawa A, Kuriyama S, Shimizu A, Yasuda J, Fuse N; Tohoku Medical Megabank Project Study Group; Tamiya G, Yamamoto M, Kinoshita K. Tadaka S, et al. Among authors: makino s. Hum Genome Var. 2019 Jun 18;6:28. doi: 10.1038/s41439-019-0059-5. eCollection 2019. Hum Genome Var. 2019. PMID: 31240104 Free PMC article.
Clustering by phenotype and genome-wide association study in autism.
Narita A, Nagai M, Mizuno S, Ogishima S, Tamiya G, Ueki M, Sakurai R, Makino S, Obara T, Ishikuro M, Yamanaka C, Matsubara H, Kuniyoshi Y, Murakami K, Ueno F, Noda A, Kobayashi T, Kobayashi M, Usuzaki T, Ohseto H, Hozawa A, Kikuya M, Metoki H, Kure S, Kuriyama S. Narita A, et al. Among authors: makino s. Transl Psychiatry. 2020 Aug 17;10(1):290. doi: 10.1038/s41398-020-00951-x. Transl Psychiatry. 2020. PMID: 32807774 Free PMC article.
1,794 results