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The Study on the Clinical Phenotype and Function of HPRT1 Gene.
Guo M, Chen Y, Lin L, Wang Y, Wang A, Yuan F, Wang C, Wang S, Zhang Y. Guo M, et al. Among authors: lin l. Child Neurol Open. 2022 Jul 19;9:2329048X221108821. doi: 10.1177/2329048X221108821. eCollection 2022 Jan-Dec. Child Neurol Open. 2022. PMID: 35875183 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: lin l. 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.
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: lin l. Front Pediatr. 2021 Nov 29;9:679342. doi: 10.3389/fped.2021.679342. eCollection 2021. Front Pediatr. 2021. PMID: 34912755 Free PMC article.
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Wang C, Wang Y, Xu W, Lin X, Xi J, Wang S, Lin L, Yuan F, Wang A, Wang C, Luo X, Xu Q, Yin R, Zhang Y, Huang X, Chen Y. Wang C, et al. Among authors: lin x, lin l. Stem Cell Res. 2022 Mar;59:102621. doi: 10.1016/j.scr.2021.102621. Epub 2021 Dec 11. Stem Cell Res. 2022. PMID: 34968892 Free article.
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Luo X, Wang Y, Yuan F, Lin L, Wang A, Wang C, Guo M, Wang S, Wang C, Xu Q, Yin R, Cheng H, Zhang Y, Liu Z, Xu W, Yan J, Zeng F, Chen Y. Luo X, et al. Among authors: lin l. Stem Cell Res. 2022 Jul;62:102798. doi: 10.1016/j.scr.2022.102798. Epub 2022 May 2. Stem Cell Res. 2022. PMID: 35537242 Free article.
20,668 results
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