Zhang Y - Search Results

1

MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.

Wang C, Lin L, Xue Y, Wang Y, Liu Z, Ou Z, Wu S, Lan X, Zhang Y, Yuan F, Luo X, Wang C, Xi J, Sun X, Chen Y. Wang C, et al. Among authors: zhang y. Front Genet. 2020 Feb 27;11:129. doi: 10.3389/fgene.2020.00129. eCollection 2020. Front Genet. 2020. PMID: 32174975 Free PMC article.

2

Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.

Yang K, Yin R, Lan X, Zhang Y, Cheng H, Wang S, Wang C, Lu Y, Xi J, Lu Q, Huang J, Chen Y. Yang K, et al. Among authors: zhang y. Med Sci Monit. 2018 Feb 6;24:751-757. doi: 10.12659/msm.907288. Med Sci Monit. 2018. PMID: 29405179 Free PMC article.

3

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

Yang K, Cheng H, Yuan F, Meng L, Yin R, Zhang Y, Wang S, Wang C, Lu Y, Xi J, Lu Q, Chen Y. Yang K, et al. Among authors: zhang y. Medicine (Baltimore). 2018 Apr;97(17):e0347. doi: 10.1097/MD.0000000000010347. Medicine (Baltimore). 2018. PMID: 29702980 Free PMC article.

4

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Zhang Y, Wang C, Yang K, Wang S, Tian G, Chen Y. Zhang Y, et al. Neurol Sci. 2018 Oct;39(10):1697-1703. doi: 10.1007/s10072-018-3483-2. Epub 2018 Jul 6. Neurol Sci. 2018. PMID: 29980873 Review.

5

Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13.

Yuan F, Wang C, Xi J, Wang S, Lin L, Wang Y, Wang A, Wang C, Luo X, Xu Q, Yin R, Cheng H, Zhang Y, Sun X, Chen Y. Yuan F, et al. Among authors: zhang y. Stem Cell Res. 2020 May;45:101832. doi: 10.1016/j.scr.2020.101832. Epub 2020 Apr 29. Stem Cell Res. 2020. PMID: 32416579 Free article.

6

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: zhang y. 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.

7

Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13.

Wang S, Lin L, Wang Y, Wang A, Liu Z, Wu S, Lan X, Jia J, Zhang Y, Yuan F, Wang C, Luo X, Sun X, Avula SK, Tolaymat A, Liu C, Ren Y, Chen Y. Wang S, et al. Among authors: zhang y. J Neurol Sci. 2020 Sep 15;416:116948. doi: 10.1016/j.jns.2020.116948. Epub 2020 Jun 8. J Neurol Sci. 2020. PMID: 32559514 Free article.

8

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: zhang y. 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.

9

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

Tang X, Lan X, Song X, Xu W, Zhang Y, Zhang H, Wu S. Tang X, et al. Among authors: zhang h, zhang y. Mol Genet Genomic Med. 2020 Nov;8(11):e1499. doi: 10.1002/mgg3.1499. Epub 2020 Oct 10. Mol Genet Genomic Med. 2020. PMID: 33037762 Free PMC article.

10

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: zhang y. 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.

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