Yan L - Search Results

1

[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: yan l. 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.

2

[Experimental study on injurious effect of burn combined with endotoxemia on the liver and its significance].

Liu YS, Yan LS. Liu YS, et al. Among authors: yan ls. Zhonghua Zheng Xing Shao Shang Wai Ke Za Zhi. 1994 Mar;10(2):142-5. Zhonghua Zheng Xing Shao Shang Wai Ke Za Zhi. 1994. PMID: 7922817 Chinese. No abstract available.

3

[Clinical value of routine non-invasive prenatal testing for the screening of non-target chromosomal abnormalities].

Zhang Y, Yan L, Liu Y, Li H. Zhang Y, et al. Among authors: yan l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jun 10;37(6):621-626. doi: 10.3760/cma.j.issn.1003-9406.2020.06.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32472537 Chinese.

4

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.

Yan L, Shen R, Cao Z, Han C, Zhang Y, Liu Y, Yang X, Xie M, Li H. Yan L, et al. Biomed Res Int. 2021 Feb 11;2021:6661860. doi: 10.1155/2021/6661860. eCollection 2021. Biomed Res Int. 2021. Retraction in: Biomed Res Int. 2023 Nov 29;2023:9781948. doi: 10.1155/2023/9781948 PMID: 33628804 Free PMC article. Retracted. Clinical Trial.

5

[Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions].

Zhang Y, Liu Y, Yan L, Zhuang D, Li H. Zhang Y, et al. Among authors: yan l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Mar 10;38(3):224-227. doi: 10.3760/cma.j.cn511374-20200205-00057. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33751529 Chinese.

6

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.

Yang X, Li Q, Wang F, Yan L, Zhuang D, Qiu H, Li H, Chen L. Yang X, et al. Among authors: yan l. Front Genet. 2021 Jun 24;12:686137. doi: 10.3389/fgene.2021.686137. eCollection 2021. Front Genet. 2021. PMID: 34249102 Free PMC article.

7

[Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].

Yan L, Tian L, Cao J, Zhou B, Zhang Y, Liu Y, Han C, Li H. Yan L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):791-794. doi: 10.3760/cma.j.cn511374-20200824-00621. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34365627 Chinese.

8

[Variation analysis of EPG5 gene in a Vici syndrome family].

Yan L, Cai Y, Liu Y, Han C, Huo Y, Xie M, Xue J, Li H. Yan L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Feb 10;39(2):189-193. doi: 10.3760/cma.j.cn511374-20210216-00131. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35076917 Chinese.

9

[Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].

Yan L, Lu Z, Liu Y, Han C, Ying H, Bao Y, Xue J, Li H. Yan L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):301-304. doi: 10.3760/cma.j.cn511374-20210331-00285. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35315040 Chinese.

10

[Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation].

Bao Y, Pan X, Pan S, Zhuang D, Li H, Mu Q, Yan L. Bao Y, et al. Among authors: yan l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 May 10;39(5):510-513. doi: 10.3760/cma.j.cn511374-20210810-00662. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35598267 Chinese.

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