年別の研究成果
年別の研究成果
検索結果
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2018
Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin
Ishikawa, K., Furuhashi, M., Sasaki, T., Kudoh, J., Tsuchisaka, A., Hashimoto, T., Sasaki, T., Yoshioka, H., Eshima, N., Matsuda-Hirose, H., Sakai, T., Hatano, Y. & Fujiwara, S., 2018 8月, In: Journal of Dermatological Science. 91, 2, p. 228-231 4 p.研究成果: Letter › 査読
2 被引用数 (Scopus) -
2014
The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype
Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Takeshita, M., Hirakiyama, A., Okuyama, T., Tanese, K., Ishiko, A., Amagai, M. & Kudoh, J., 2014, In: British Journal of Dermatology. 170, 5, p. 1187-1189 3 p.研究成果: Letter › 査読
16 被引用数 (Scopus) -
1993
DNA diagnosis of Leber's hereditary optic neuropathy by using dried blood specimens
Mashima, Y., Hiida, Y., Kubota, R., Oguchi, Y., Kudoh, J. & Shimizu, N., 1993, In: American Journal of Ophthalmology. 116, 6, p. 773-774 2 p.研究成果: Letter › 査読
3 被引用数 (Scopus)