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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N. Fan X, et al. Among authors: li c, li x, li m. J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22. J Genet Genomics. 2021. PMID: 34006472
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: li c. 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
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.
Hu X, Chen R, Fu C, Fan X, Wang J, Qian J, Yi S, Li C, Luo J, Su J, Zhang S, Xie B, Zheng H, Lai Y, Chen Y, Li H, Gu X, Chen S, Shen Y. Hu X, et al. Among authors: li c, li h. Mol Cell Endocrinol. 2016 Mar 5;423:60-6. doi: 10.1016/j.mce.2016.01.007. Epub 2016 Jan 8. Mol Cell Endocrinol. 2016. PMID: 26777470
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. Among authors: li c, li j, li g, li h, li n. 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
82,316 results
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