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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 4
2004 10
2005 5
2006 2
2007 2
2008 3
2009 1
2010 3
2011 4
2012 3
2013 6
2014 5
2015 2
2016 1
2017 1
2018 2
2019 1
2021 1
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57 results
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Page 1
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: kudoh j. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
Pathological characterization of pachydermia in pachydermoperiostosis.
Tanese K, Niizeki H, Seki A, Otsuka A, Kabashima K, Kosaki K, Kuwahara M, Miyakawa S, Miyasaka M, Matsuoka K, Okuyama T, Shiohama A, Sasaki T, Kudoh J, Amagai M, Ishiko A. Tanese K, et al. Among authors: kudoh j. J Dermatol. 2015 Jul;42(7):710-4. doi: 10.1111/1346-8138.12869. Epub 2015 May 11. J Dermatol. 2015. PMID: 25964088 Free PMC article.
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. Ishikawa K, et al. Among authors: kudoh j. J Dermatol Sci. 2018 May 24:S0923-1811(18)30234-2. doi: 10.1016/j.jdermsci.2018.05.008. Online ahead of print. J Dermatol Sci. 2018. PMID: 29866520 No abstract available.
LINE1 family member is negative regulator of HLA-G expression.
Ikeno M, Suzuki N, Kamiya M, Takahashi Y, Kudoh J, Okazaki T. Ikeno M, et al. Among authors: kudoh j. Nucleic Acids Res. 2012 Nov;40(21):10742-52. doi: 10.1093/nar/gks874. Epub 2012 Sep 21. Nucleic Acids Res. 2012. PMID: 23002136 Free PMC article.
AIRE functions as an E3 ubiquitin ligase.
Uchida D, Hatakeyama S, Matsushima A, Han H, Ishido S, Hotta H, Kudoh J, Shimizu N, Doucas V, Nakayama KI, Kuroda N, Matsumoto M. Uchida D, et al. Among authors: kudoh j. J Exp Med. 2004 Jan 19;199(2):167-72. doi: 10.1084/jem.20031291. J Exp Med. 2004. PMID: 14734522 Free PMC article.
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