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Segawa syndrome caused by TH gene mutation and its mechanism.
Wang Y, Wang C, Liu M, Xu W, Wang S, Yuan F, Luo X, Xu Q, Yin R, Wang A, Guo M, Lin L, Wang C, Cheng H, Liu Z, Zhang Y, Zeng F, Yan J, Chen Y. Wang Y, et al. Among authors: wang c, wang s, wang a. Front Genet. 2022 Dec 8;13:1004307. doi: 10.3389/fgene.2022.1004307. eCollection 2022. Front Genet. 2022. PMID: 36568392 Free PMC article.
Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene.
Luo X, Wang C, Lin L, Yuan F, Wang S, Wang Y, Wang A, Wang C, Wu S, Lan X, Xu Q, Yin R, Cheng H, Zhang Y, Xi J, Zhang J, Sun X, Yan J, Zeng F, Chen Y. Luo X, et al. Among authors: wang y, wang c, wang s, wang a. Front Pediatr. 2021 Nov 29;9:679342. doi: 10.3389/fped.2021.679342. eCollection 2021. Front Pediatr. 2021. PMID: 34912755 Free PMC article.
Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome.
Wang Y, Yuan F, Wang A, Wang C, Lin L, Wang S, Wang C, Luo X, Xu Q, Yin R, Cheng H, Zhang Y, Sun X, Xi J, Yan J, Zeng F, Chen Y. Wang Y, et al. Among authors: wang c, wang s, wang a. Stem Cell Res. 2020 Jul;46:101838. doi: 10.1016/j.scr.2020.101838. Epub 2020 May 8. Stem Cell Res. 2020. PMID: 32505899 Free article.
Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.
Wang A, Xi J, Yuan F, Wang Y, Wang S, Wang C, Wang C, Lin L, Luo X, Xu Q, Yin R, Cheng H, Zhang Y, Sun X, Yang J, Yan J, Zeng F, Chen Y. Wang A, et al. Among authors: wang y, wang s, wang c. Stem Cell Res. 2020 Jul;46:101872. doi: 10.1016/j.scr.2020.101872. Epub 2020 Jun 6. Stem Cell Res. 2020. PMID: 32603881 Free article.
Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency.
Yuan F, Wang S, Wang Y, Wang A, Wang C, Luo X, Xu Q, Yin R, Cheng H, Wang C, Guo M, Zhang Y, Xi J, Yang J, Sun X, Yan J, Zeng F, Chen Y. Yuan F, et al. Among authors: wang y, wang s, wang c, wang a. Stem Cell Res. 2021 May;53:102292. doi: 10.1016/j.scr.2021.102292. Epub 2021 Mar 17. Stem Cell Res. 2021. PMID: 33774333 Free article.
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
Wang C, Luo X, Wang Y, Liu Z, Wu S, Wang S, Lan X, Xu Q, Xu W, Yuan F, Wang A, Zeng F, Jia J, Chen Y. Wang C, et al. Among authors: wang y, wang s, wang a. Intern Med. 2021 Dec 1;60(23):3721-3728. doi: 10.2169/internalmedicine.6467-20. Epub 2021 Jun 19. Intern Med. 2021. PMID: 34148947 Free PMC article.
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