Yan L - Search Results

1

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.

2

[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.

3

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.

4

[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.

5

[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.

6

[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.

7

[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.

8

[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.

9

Application of whole exome sequencing in fetal cases with skeletal abnormalities.

Cao J, Chen A, Tian L, Yan L, Li H, Zhou B. Cao J, et al. Among authors: yan l. Heliyon. 2022 Jul 6;8(7):e09819. doi: 10.1016/j.heliyon.2022.e09819. eCollection 2022 Jul. Heliyon. 2022. PMID: 35855989 Free PMC article.

10

[A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines].

Zhang Y, Xue J, Yan L, Liu Y, Zhuang D, Xie M, Chen Y, An Y, Shen Y, Li H. Zhang Y, et al. Among authors: yan l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):814-818. doi: 10.3760/cma.j.cn511374-20210519-00429. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35929928 Chinese.

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