研究者
J-GLOBAL ID：201801011224790325
更新日: 2021年10月20日
野村 紀子
Noriko Nomura
論文 (14件)：
Daisuke Fukushi, Kenichiro Yamada, Kaoru Suzuki, Mie Inaba, Noriko Nomura, Yasuyo Suzuki, Kimiko Katoh, Seiji Mizuno, Nobuaki Wakamatsu. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. Gene. 2018. 655. 65-70
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, et al. Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. Human mutation. 2017. 38. 7. 805-815
Shimpei Baba, Takashi Saito, Yasukazu Yamada, Eri Takeshita, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu, Masayuki Sasaki. Novel mutation in HPRT1 causing a splicing error with multiple variations. NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS. 2017. 36. 1. 1-6
Kenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Yuji Nakamura, Daisuke Fukushi, Kei Murayama, Yoshiharu Shimomura, James Pitt, et al. Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl) cysteine excretion. JOURNAL OF MEDICAL GENETICS. 2015. 52. 10. 691-698
Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, Mari Matsuo, Yuka Suzuki, Kiyoko Sameshima, Reiko Kimura, Yuto Yamamoto, Daisuke Fukushi, Yayoi Fukuhara, et al. The Spectrum of ZEB2 Mutations Causing the Mowat-Wilson Syndrome in Japanese Populations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014. 164. 8. 1899-1908
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