He Y - Search Results

1

Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report.

Xu M, Jiang J, He Y, Gu WY, Jin B. Xu M, et al. Among authors: he y. World J Clin Cases. 2022 Sep 16;10(26):9332-9339. doi: 10.12998/wjcc.v10.i26.9332. World J Clin Cases. 2022. PMID: 36159412 Free PMC article.

2

[Analysis of clinical characteristics and genetic variants in two children with Limb-girdle muscular dystrophy autosomal recessive 9 FKRP-related].

Yu J, Xu M, Ding L, Huang Y, Guo H, He Y. Yu J, et al. Among authors: he y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Oct 10;40(10):1217-1221. doi: 10.3760/cma.j.cn511374-20220929-00657. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37730220 Chinese.

3

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.

Yan L, He Y, Zhang Y, Liu Y, Xu L, Han C, Zhao Y, Li H. Yan L, et al. Among authors: he y. BMC Med Genomics. 2023 Dec 11;16(1):323. doi: 10.1186/s12920-023-01765-8. BMC Med Genomics. 2023. PMID: 38082310 Free PMC article.

4

Histiocytic sarcoma following CAR T-cell therapy: a case report.

An K, He Y, Tang Y, Gu X, Qian J, Li B. An K, et al. Among authors: he y. Int J Hematol. 2024 Mar;119(3):338-341. doi: 10.1007/s12185-023-03695-8. Epub 2024 Jan 31. Int J Hematol. 2024. PMID: 38294639

5

Mendelian Randomization Analysis Reveals No Causal Relationship Between Plasma α-Synuclein and Parkinson's Disease.

Zhang Q, Lin Z, He Y, Jiang J, Hu D. Zhang Q, et al. Among authors: he y. Mol Neurobiol. 2023 Apr;60(4):2268-2276. doi: 10.1007/s12035-023-03206-0. Epub 2023 Jan 14. Mol Neurobiol. 2023. PMID: 36640248

6

Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.

Yan L, Sun X, Lou B, Zhang Y, Zhuang D, Jia J, Zhang L, He Y, Xu L, Wu S, Zhou Q, Chen C, Yu X, Li H. Yan L, et al. Among authors: he y. Clin Immunol. 2024 Dec;269:110394. doi: 10.1016/j.clim.2024.110394. Epub 2024 Oct 29. Clin Immunol. 2024. PMID: 39481740

7

[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].

Yan L, Zhang Y, Tian L, Liu Y, He Y, Han C, Zhuang D, Li H. Yan L, et al. Among authors: he y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Sep 10;41(9):1059-1065. doi: 10.3760/cma.j.cn511374-20230819-00077. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 39217483 Chinese.

8

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.

Yan L, Ding S, He Y, Fu B, Chen C, Li H. Yan L, et al. Among authors: he y. Mol Genet Genomic Med. 2024 Aug;12(8):e2507. doi: 10.1002/mgg3.2507. Mol Genet Genomic Med. 2024. PMID: 39132856 Free PMC article.

9

The discovery of potentially selective human neuronal nitric oxide synthase (nNOS) Inhibitors: a combination of pharmacophore modelling, CoMFA, virtual screening and molecular docking studies.

Xu G, Chen Y, Shen K, Wang X, Li F, He Y. Xu G, et al. Among authors: he y. Int J Mol Sci. 2014 May 14;15(5):8553-69. doi: 10.3390/ijms15058553. Int J Mol Sci. 2014. PMID: 24830557 Free PMC article.

10

[Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene].

Yan L, Zhuang D, Tu Y, Zhang Y, Liu Y, He Y, Li H. Yan L, et al. Among authors: he y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Oct 10;40(10):1252-1256. doi: 10.3760/cma.j.cn511374-20221024-00713. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37730226 Chinese.

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