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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: yi s. 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: yi s. 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
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: yi s. Mol Cytogenet. 2016 May 5;9:39. doi: 10.1186/s13039-016-0247-7. eCollection 2016. Mol Cytogenet. 2016. PMID: 27158264 Free PMC article.
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.
Lu W, Liang M, Su J, Wang J, Li L, Zhang S, Qin Z, Huang L, Lu Y, Yi S, Yi S, Xie B, Zheng H, Luo J, Gao X, Shen Y. Lu W, et al. Among authors: yi s. Mol Genet Genomic Med. 2020 May;8(5):e1212. doi: 10.1002/mgg3.1212. Epub 2020 Mar 11. Mol Genet Genomic Med. 2020. PMID: 32160656 Free PMC article.
4,311 results