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527 results

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Page 1
Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Kabata R, Okuda H, Noguchi A, Kondo D, Fujiwara M, Hata K, Kato Y, Ishikawa K, Tanaka M, Sekine Y, Hishikawa N, Mizukami T, Ito J, Akasaka M, Sakurai K, Yoshida T, Minoura H, Hayashi T, Inoshita K, Matsuyama M, Kinjo N, Cao Y, Inoue S, Kobayashi H, Harada KH, Youssefian S, Takahashi T, Koizumi A. Kabata R, et al. Among authors: mizukami t. PLoS One. 2018 Dec 17;13(12):e0208516. doi: 10.1371/journal.pone.0208516. eCollection 2018. PLoS One. 2018. PMID: 30557356 Free PMC article.
[Genetic analysis of a patient with dyskeratosis congenita].
Yoshimoto T, Yanabe Y, Mizukami T, Ishibashi F, Adachi N, Takaki K, Nunoi H. Yoshimoto T, et al. Among authors: mizukami t. Rinsho Ketsueki. 2000 Jun;41(6):524-9. Rinsho Ketsueki. 2000. PMID: 10921354 Japanese.
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, Saito M, Yasumi T, Takaoka Y, Nakahata T, Mizukami T, Nunoi H, Kiyohara Y, Yoden A, Murata T, Sasaki S, Ito E, Akutagawa H, Kawai T, Imai C, Okada S, Kobayashi M, Heike T. Kawai T, et al. Among authors: mizukami t. Blood. 2012 Jun 7;119(23):5458-66. doi: 10.1182/blood-2011-05-354167. Epub 2012 Apr 19. Blood. 2012. PMID: 22517901 Free article.
Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome.
Gono T, Yazaki M, Agematsu K, Matsuda M, Yasui K, Yamaura M, Hidaka F, Mizukami T, Nunoi H, Kubota T, Ikeda S. Gono T, et al. Among authors: mizukami t. Intern Med. 2008;47(11):1053-6. doi: 10.2169/internalmedicine.47.0919. Epub 2008 Jun 2. Intern Med. 2008. PMID: 18520120 Free article.
Successful bone marrow transplantation in chronic granulomatous disease.
Miki M, Ono A, Awaya A, Miyagawa S, Onodera R, Kurita E, Hiraoka A, Hidaka F, Mizukami T, Nunoi H, Kobayashi M. Miki M, et al. Among authors: mizukami t. Pediatr Int. 2009 Dec;51(6):838-41. doi: 10.1111/j.1442-200X.2009.02931.x. Pediatr Int. 2009. PMID: 20158628 No abstract available.
527 results