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Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA.
Horai S, Hayasaka K. Horai S, et al. Among authors: hayasaka k. Am J Hum Genet. 1990 Apr;46(4):828-42. Am J Hum Genet. 1990. PMID: 2316527 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: hayasaka k. 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.
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K. Abe A, et al. Among authors: hayasaka k. J Hum Genet. 2009 Feb;54(2):94-7. doi: 10.1038/jhg.2008.13. Epub 2009 Jan 16. J Hum Genet. 2009. PMID: 19158810
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
Otagiri T, Sugai K, Kijima K, Arai H, Sawaishi Y, Shimohata M, Hayasaka K. Otagiri T, et al. Among authors: hayasaka k. J Hum Genet. 2006;51(7):625-8. doi: 10.1007/s10038-006-0408-3. Epub 2006 Jun 13. J Hum Genet. 2006. PMID: 16770524
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: hayasaka k. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct 15. Hum Mutat. 2013. PMID: 24115232
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: hayasaka k. Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993195 Free PMC article.
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y. Tanigawa J, et al. Among authors: hayasaka k. Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20. Hum Mutat. 2017. PMID: 28337824
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.
Ogino D, Hashimoto T, Hattori M, Sugawara N, Akioka Y, Tamiya G, Makino S, Toyota K, Mitsui T, Hayasaka K. Ogino D, et al. Among authors: hayasaka k. J Hum Genet. 2016 Feb;61(2):137-41. doi: 10.1038/jhg.2015.122. Epub 2015 Oct 15. J Hum Genet. 2016. PMID: 26467726
Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K. Shimokaze T, et al. Among authors: hayasaka k. J Hum Genet. 2015 Sep;60(9):473-7. doi: 10.1038/jhg.2015.65. Epub 2015 Jun 11. J Hum Genet. 2015. PMID: 26063465
Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms.
Sato H, Uchida T, Toyota K, Nakamura T, Tamiya G, Kanno M, Hashimoto T, Watanabe M, Aoki K, Hayasaka K. Sato H, et al. Among authors: hayasaka k. J Hum Genet. 2015 Jan;60(1):35-40. doi: 10.1038/jhg.2014.98. Epub 2014 Nov 13. J Hum Genet. 2015. PMID: 25391605
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