Li D - Search Results

1

[Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].

Liu M, Li D, Li Y, Mei D, Dong S, Wang Y, Hu W, Gao C. Liu M, et al. Among authors: li d, li y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):437-442. doi: 10.3760/cma.j.cn511374-20230116-00028. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38565509 Chinese.

2

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.

Gao C, Wang X, Mei S, Li D, Duan J, Zhang P, Chen B, Han L, Gao Y, Yang Z, Li B, Yang XA. Gao C, et al. Among authors: li d, li b. Front Genet. 2019 May 24;10:485. doi: 10.3389/fgene.2019.00485. eCollection 2019. Front Genet. 2019. PMID: 31178897 Free PMC article.

3

[A case of SBBYSS syndrome caused by KAT6B gene variant].

Lyu N, Shang Q, Li J, Ma C, Li D. Lyu N, et al. Among authors: li d, li j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):727-730. doi: 10.3760/cma.j.issn.1003-9406.2019.07.018. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302922 Chinese.

4

[Kleefstra syndrome 1 and ring chromosome 9 in a case].

Lyu N, Li D, Li J, Shang Q, Ma C. Lyu N, et al. Among authors: li d, li j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):837-840. doi: 10.3760/cma.j.issn.1003-9406.2019.08.021. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31400141 Chinese.

5

[Phenotypic and genetic analysis of a boy with partial trisomy of 22q].

Zhang B, Xu Y, Kong J, Song Y, Li D. Zhang B, et al. Among authors: li d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 May 10;37(5):532-534. doi: 10.3760/cma.j.issn.1003-9406.2020.05.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32335879 Chinese.

6

[Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome].

Zhang B, Kong J, Mei S, Li D, Song Y. Zhang B, et al. Among authors: li d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):785-788. doi: 10.3760/cma.j.issn.1003-9406.2020.07.020. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32619265 Chinese.

7

[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].

Yang D, Wang X, Yang J, Liu D, Li D. Yang D, et al. Among authors: li d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1384-1386. doi: 10.3760/cma.j.cn511374-20191015-00528. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 33306828 Chinese.

8

[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion].

Mei D, Mei S, Chen G, Wang Y, Wang X, Zhang J, Chen X, Li D, Zhang Y. Mei D, et al. Among authors: li d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Mar 10;38(3):219-223. doi: 10.3760/cma.j.cn511374-20200515-00347. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33751528 Chinese.

9

[Clinical and molecular genetic analysis of a case of MEGDEL syndrome].

Zhang X, Li D, Lyu N, Yang J, Yang C, Zhang X, Ma W, Li D. Zhang X, et al. Among authors: li d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Mar 10;38(3):271-274. doi: 10.3760/cma.j.cn511374-20200117-00036. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33751540 Chinese.

10

[Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting from a translocation involving chromosome satellite].

Zhang Z, Zhao S, Song J, Li R, Zhang Y, Li D. Zhang Z, et al. Among authors: li d, li r. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Apr 10;38(4):373-375. doi: 10.3760/cma.j.cn511374-20200219-00090. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33834469 Chinese.

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