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4,685 results

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Page 1
Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein.
Murata Y, Yasumi T, Shirakawa R, Izawa K, Sakai H, Abe J, Tanaka N, Kawai T, Oshima K, Saito M, Nishikomori R, Ohara O, Ishii E, Nakahata T, Horiuchi H, Heike T. Murata Y, et al. Among authors: sakai h. Blood. 2011 Aug 4;118(5):1225-30. doi: 10.1182/blood-2011-01-329540. Epub 2011 Jun 8. Blood. 2011. PMID: 21653941 Free article.
[Hyperimmunoglobulinemia D and periodic fever syndrome].
Sakai H, Heike T. Sakai H, et al. Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):382-7. doi: 10.2177/jsci.34.382. Nihon Rinsho Meneki Gakkai Kaishi. 2011. PMID: 22041426 Free article. Review. 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: sakai h. 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.
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, Heike T, Nakahata T, Nishikomori R, Al-Muhsen S, Boisson-Dupuis S, Casanova JL, Alzahrani M, Shehri MA, Elghazali G, Takihara Y, Kobayashi M. Tsumura M, et al. Among authors: sakai h. Hum Mutat. 2012 Sep;33(9):1377-87. doi: 10.1002/humu.22113. Epub 2012 Jun 7. Hum Mutat. 2012. PMID: 22573496 Free PMC article.
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T, Yoshioka K, Nishikomori R, Sakai H, Abe J, Yamashita Y, Hiramoto R, Morimoto A, Ishii E, Arakawa H, Kaneko U, Ohshima Y, Okamoto N, Ohara O, Hata I, Shigematsu Y, Kawai T, Yasumi T, Heike T. Tanaka T, et al. Among authors: sakai h. Mod Rheumatol. 2019 Jan;29(1):181-187. doi: 10.1080/14397595.2018.1442639. Epub 2018 Mar 2. Mod Rheumatol. 2019. PMID: 29451047
A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene.
Sakai H, Ito S, Nishikomori R, Takaoka Y, Kawai T, Saito M, Okafuji I, Yasumi T, Heike T, Nakahata T. Sakai H, et al. Rheumatology (Oxford). 2010 Jan;49(1):194-6. doi: 10.1093/rheumatology/kep315. Epub 2009 Oct 23. Rheumatology (Oxford). 2010. PMID: 19854854 No abstract available.
4,685 results