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

Year Number of Results
2002 1
2005 1
2007 2
2008 4
2009 2
2010 4
2011 4
2012 3
2013 7
2014 8
2015 13
2016 18
2017 7
2018 9
2019 12
2020 16
2021 23
2022 35
2023 20
2024 18

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181 results

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Page 1
Seven-and-a-half syndrome.
Xu Z, Zhao Y, Yan C, Ji K. Xu Z, et al. Among authors: yan c. Pract Neurol. 2024 Feb 7:pn-2023-003982. doi: 10.1136/pn-2023-003982. Online ahead of print. Pract Neurol. 2024. PMID: 38326019 No abstract available.
Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.
Zhao M, Su HZ, Zeng YH, Sun Y, Guo XX, Li YL, Wang C, Zhao ZY, Huang XJ, Lin KJ, Ye ZL, Lin BW, Hong S, Zheng J, Liu YB, Yao XP, Yang D, Lu YQ, Chen HZ, Zuo E, Yang G, Wang HT, Huang CW, Lin XH, Cen Z, Lai LL, Zhang YK, Li X, Lai T, Lin J, Zuo DD, Lin MT, Liou CW, Kong QX, Yan CZ, Xiong ZQ, Wang N, Luo W, Zhao CP, Cheng X, Chen WJ. Zhao M, et al. Cell Discov. 2022 Nov 29;8(1):128. doi: 10.1038/s41421-022-00475-2. Cell Discov. 2022. PMID: 36443312 Free PMC article.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J. Yu J, et al. Among authors: yan c. Am J Hum Genet. 2022 Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. Am J Hum Genet. 2022. PMID: 35148830 Free PMC article.
Response to Eura et al.
Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J. Yu J, et al. Among authors: yan c. Am J Hum Genet. 2022 Nov 3;109(11):2090-2091. doi: 10.1016/j.ajhg.2022.10.003. Am J Hum Genet. 2022. PMID: 36332613 Free PMC article. No abstract available.
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Yu J, Deng J, Guo X, Shan J, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Zhou B, Li P, Liu Y, Wang Y, Yan C, Hong D, Yuan Y, Wang Z. Yu J, et al. Among authors: yan c. Brain. 2021 Jul 28;144(6):1819-1832. doi: 10.1093/brain/awab077. Brain. 2021. PMID: 33693509 Free PMC article.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: yan c. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.
181 results