Huang Y - Search Results

1

[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy].

Zhang K, Huang Y, Gai Z, Liu Y. Zhang K, et al. Among authors: huang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10;35(5):694-698. doi: 10.3760/cma.j.issn.1003-9406.2018.05.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30298498 Chinese.

2

[Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I].

Ma J, Yang Y, Zhang K, Huang Y, Lyu Y, Gao M, Gai Z, Liu Y. Ma J, et al. Among authors: huang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1206-1209. doi: 10.3760/cma.j.issn.1003-9406.2019.12.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813149 Chinese.

3

[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].

Gao M, Huang Y, Zhang K, Lyu Y, Dong R, Ma J, Wang D, Gai Z, Liu Y. Gao M, et al. Among authors: huang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):162-165. doi: 10.3760/cma.j.issn.1003-9406.2020.02.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32034746 Chinese.

4

[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII].

Zhang K, Huang Y, Lyu Y, Gao M, Ma J, Gai Z, Liu Y. Zhang K, et al. Among authors: huang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):423-426. doi: 10.3760/cma.j.issn.1003-9406.2020.04.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32219827 Chinese.

5

[CLPB gene mutations analysis in a case of type 3-methylglutaconic aciduria].

Dong R, Zhang K, Huang Y, Jiang Y, Lyu Y, Gao M, Gai Z, Liu Y. Dong R, et al. Among authors: huang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):1014-1017. doi: 10.3760/cma.j.cn511374-20190912-00470. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32820519 Chinese.

6

[Clinical and molecular cytogenetic analysis of a family with mental retardation caused by an unbalanced translocation involving chromosomes 3 and 22].

Zhang K, Dong R, Huang Y, Yang Y, Wang Y, Zhang H, Zhang Y, Liu Y, Gai Z. Zhang K, et al. Among authors: huang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):30-34. doi: 10.3760/cma.j.issn.1003-9406.2017.01.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28186589 Chinese.

7

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Zhang K, Huang Y, Dong R, Yang Y, Wang Y, Zhang H, Zhang Y, Gai Z, Liu Y. Zhang K, et al. Among authors: huang y. Mol Cytogenet. 2018 Feb 20;11:18. doi: 10.1186/s13039-017-0349-x. eCollection 2018. Mol Cytogenet. 2018. PMID: 29467824 Free PMC article.

8

Generation of two induced pluripotent stem cell lines from patients with unbalanced translocation (3;22).

Ma Y, Zhang H, Yang X, Li Y, Guan J, Zhang K, Huang Y, Pan G, Gai Z, Liu Y. Ma Y, et al. Among authors: huang y. Stem Cell Res. 2019 Oct;40:101545. doi: 10.1016/j.scr.2019.101545. Epub 2019 Aug 21. Stem Cell Res. 2019. PMID: 31472451 Free article.

9

Correction to: Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Zhang K, Huang Y, Dong R, Yang Y, Wang Y, Zhang H, Zhang Y, Gai Z, Liu Y. Zhang K, et al. Among authors: huang y. Mol Cytogenet. 2018 Apr 23;11:25. doi: 10.1186/s13039-018-0373-5. eCollection 2018. Mol Cytogenet. 2018. PMID: 29714353 Free PMC article.

10

C282Y and H63D Polymorphisms in Hemochromatosis Gene and Risk of Parkinson's Disease: A Meta-Analysis.

Duan C, Wang M, Zhang Y, Wei X, Huang Y, Zhang H, Cheng L, Gai Z. Duan C, et al. Among authors: huang y. Am J Alzheimers Dis Other Demen. 2016 May;31(3):201-7. doi: 10.1177/1533317515602220. Epub 2015 Sep 3. Am J Alzheimers Dis Other Demen. 2016. PMID: 26340960 Free PMC article.

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