Li H - Search Results

1

[Analysis of clinical features and genetic variant in a child with Cowden syndrome 1].

Yan L, Tian L, Zhang Y, Liu Y, Cao J, Li D, Zou J, Li H. Yan L, et al. Among authors: li d, li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Feb 10;41(2):230-233. doi: 10.3760/cma.j.cn511374-20221213-00870. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38311565 Chinese.

2

[Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing].

Bao Y, Pan X, Pan S, Ge L, Zhuang D, Li H. Bao Y, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Dec 10;39(12):1375-1378. doi: 10.3760/cma.j.cn511374-20210330-00283. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36453962 Chinese.

3

[Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].

Yan L, Liu Y, Zhang Y, Tian L, Cao J, Li H. Yan L, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):36-41. doi: 10.3760/cma.j.cn511374-20211211-00982. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36584998 Chinese.

4

[Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene].

Feng Y, Ding S, Zhang P, Fang J, Li H, Xie M. Feng Y, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Apr 10;40(4):478-482. doi: 10.3760/cma.j.cn511374-20220406-00228. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36972946 Chinese.

5

[Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene].

Zou J, Zhang Y, Liu Y, Xue A, Yan L, Li H. Zou J, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):582-587. doi: 10.3760/cma.j.cn511374-20221013-00684. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37102294 Chinese.

6

[Prenatal diagnosis and genetic analysis for two Chinese pedigrees carrying large fragment deletions of 13q21].

Xie M, Xue J, Zhang Y, Liu Y, Li H. Xie M, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):588-592. doi: 10.3760/cma.j.cn511374-20220802-00515. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37102295 Chinese.

7

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.

Zhang L, Hu Y, Xie M, Zhang Y, Cen K, Chen L, Cui Y, Li H, Wang D. Zhang L, et al. Among authors: li h. J Int Med Res. 2023 Apr;51(4):3000605231163811. doi: 10.1177/03000605231163811. J Int Med Res. 2023. PMID: 37115522 Free PMC article.

8

[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].

Zhuang D, Wang F, Ding S, Zheng Z, Yu Q, Lyu L, Sun S, Yang R, Que W, Li H. Zhuang D, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jun 10;40(6):641-647. doi: 10.3760/cma.j.cn511374-20220720-00479. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37211996 Chinese.

9

[Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome].

Shen Y, Sun S, Xie M, Li H, Xu L. Shen Y, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jul 10;40(7):833-837. doi: 10.3760/cma.j.cn511374-20220606-00391. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37368385 Chinese.

10

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

Yan L, Cao J, Zhang Y, Liu Y, Zou J, Lou B, Zhuang D, Li H. Yan L, et al. Among authors: li h. BMC Med Genomics. 2023 Aug 17;16(1):190. doi: 10.1186/s12920-023-01631-7. BMC Med Genomics. 2023. PMID: 37592254 Free PMC article.

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