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Novel pathogenic ACAN variants in non-syndromic short stature patients.
Hu X, Gui B, Su J, Li H, Li N, Yu T, Zhang Q, Xu Y, Li G, Chen Y, Qing Y; Chinese Genetic Short Stature Consortium; Li C, Luo J, Fan X, Ding Y, Li J, Wang J, Wang X, Chen S, Shen Y. Hu X, et al. Clin Chim Acta. 2017 Jun;469:126-129. doi: 10.1016/j.cca.2017.04.004. Epub 2017 Apr 7. Clin Chim Acta. 2017. PMID: 28396070
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.
Fu C, Zhang S, Su J, Luo S, Zheng H, Wang J, Qin H, Chen Y, Shen Y, Hu X, Fan X, Luo J, Xie B, Chen R, Chen S. Fu C, et al. Among authors: hu x. J Endocrinol Invest. 2015 Nov;38(11):1219-24. doi: 10.1007/s40618-015-0382-8. Epub 2015 Sep 9. J Endocrinol Invest. 2015. PMID: 26349762
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.
Fu C, Chen R, Zhang S, Luo S, Wang J, Chen Y, Zheng H, Su J, Hu X, Fan X, Luo J, Yi S, Lai Y, Li C, Xie B, Shen Y, Gu X, Chen S. Fu C, et al. Among authors: hu x. Clin Chim Acta. 2015 Oct 23;450:322-6. doi: 10.1016/j.cca.2015.09.008. Epub 2015 Sep 8. Clin Chim Acta. 2015. PMID: 26362610
de novo interstitial deletions at the 11q23.3-q24.2 region.
Su J, Chen R, Luo J, Fan X, Fu C, Wang J, He S, Hu X, Zhang S, Yi S, Chen S, Shen Y. Su J, et al. Among authors: hu x. Mol Cytogenet. 2016 May 5;9:39. doi: 10.1186/s13039-016-0247-7. eCollection 2016. Mol Cytogenet. 2016. PMID: 27158264 Free PMC article.
34,958 results
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