Lv Y - Search Results

1

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Dong R, Wei X, Zhang K, Song F, Lv Y, Gao M, Wang D, Ma J, Gai Z, Liu Y. Dong R, et al. Among authors: lv y. Front Genet. 2022 Aug 29;13:932760. doi: 10.3389/fgene.2022.932760. eCollection 2022. Front Genet. 2022. PMID: 36105079 Free PMC article.

2

Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.

Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Among authors: lv y. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.

3

Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking.

Liu S, Zhang K, Song F, Yang Y, Lv Y, Gao M, Liu Y, Gai Z. Liu S, et al. Among authors: lv y. Cytogenet Genome Res. 2017;152(1):1-8. doi: 10.1159/000477520. Epub 2017 Jun 24. Cytogenet Genome Res. 2017. PMID: 28647735

4

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Wang D, Gao M, Zhang K, Jin R, Lv Y, Liu Y, Ma J, Wan Y, Gai Z, Liu Y. Wang D, et al. Among authors: lv y. Front Pharmacol. 2019 Jul 25;10:814. doi: 10.3389/fphar.2019.00814. eCollection 2019. Front Pharmacol. 2019. PMID: 31404137 Free PMC article.

5

Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1.

Zhang H, Ma Y, Song F, Yang X, Li Y, Guan J, Lv Y, Gao M, Ma J, Liu Y, Gai Z. Zhang H, et al. Among authors: lv y. Stem Cell Res. 2019 Aug;39:101505. doi: 10.1016/j.scr.2019.101505. Epub 2019 Jul 19. Stem Cell Res. 2019. PMID: 31415973 Free article.

6

Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.

Yan B, Wang C, Zhang K, Zhang H, Gao M, Lv Y, Li X, Liu Y, Gai Z. Yan B, et al. Among authors: lv y. Front Genet. 2019 Aug 22;10:718. doi: 10.3389/fgene.2019.00718. eCollection 2019. Front Genet. 2019. PMID: 31507628 Free PMC article.

7

Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene.

Ma Y, Zhang H, Yang X, Li Y, Guan J, Lv Y, Li H, Liu Y, Gai Z. Ma Y, et al. Among authors: lv y. Stem Cell Res. 2019 Oct;40:101559. doi: 10.1016/j.scr.2019.101559. Epub 2019 Sep 10. Stem Cell Res. 2019. PMID: 31526942 Free article.

8

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.

Li Y, Zhang H, Yan B, Ma Y, Yang X, Guan J, Lv Y, Gao M, Ma J, Gai Z, Liu Y. Li Y, et al. Among authors: lv y. Stem Cell Res. 2019 Oct;40:101579. doi: 10.1016/j.scr.2019.101579. Epub 2019 Sep 14. Stem Cell Res. 2019. PMID: 31610500 Free article.

9

Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene.

Guan J, Liu X, Zhang H, Lv Y, Wang X, Yang X, Ma Y, Liu Q, Liu Y, Sun W. Guan J, et al. Among authors: lv y. Stem Cell Res. 2019 Dec;41:101628. doi: 10.1016/j.scr.2019.101628. Epub 2019 Oct 18. Stem Cell Res. 2019. PMID: 31678776 Free article.

10

An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.

Ma Y, Zhang H, Li X, Yang X, Li Y, Guan J, Lv Y, Gai Z, Liu Y. Ma Y, et al. Among authors: lv y. Stem Cell Res. 2020 Mar;43:101729. doi: 10.1016/j.scr.2020.101729. Epub 2020 Feb 4. Stem Cell Res. 2020. PMID: 32062132 Free article.

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