Shen Y - Search Results

1

[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].

Fan L, Li Y, Luo H, Shen Y, Yuan M, Yang Z, Gan J. Fan L, et al. Among authors: shen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):397-400. doi: 10.3760/cma.j.cn511374-20210807-00656. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35446974 Chinese.

2

A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.

Zhang J, Shen Y, Yang Z, Yang F, Li Y, Yu B, Chen W, Gan J. Zhang J, et al. Among authors: shen y. J Hum Genet. 2022 Feb;67(2):79-85. doi: 10.1038/s10038-021-00969-z. Epub 2021 Aug 11. J Hum Genet. 2022. PMID: 34376795 Free PMC article. Review.

3

[Clinical and genetic analysis of PACS2 gene variant in two child patients with developmental and epileptic encephalopathy 66].

Shen Y, Li Y, Zhang J, Yuan M, Zhang J, Luo R, Gan J. Shen Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):969-972. doi: 10.3760/cma.j.cn511374-20210301-00172. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34625934 Chinese.

4

[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].

Zhang J, Li Y, Luo H, Shen Y, Yuan M, Yang Z, Gan J. Zhang J, et al. Among authors: shen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):293-296. doi: 10.3760/cma.j.cn511374-20210630-00556. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35315038 Chinese.

5

[De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report].

Zhang J, Li Y, Luo H, Shen Y, Yuan M, Yang Z, Gan J. Zhang J, et al. Among authors: shen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 May 10;39(5):484-487. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35598262 Chinese.

6

Rare variant of TBL1XR1 in West syndrome: A case report.

Shen Y, Yuan M, Luo H, Yang Z, Liang M, Gan J. Shen Y, et al. Mol Genet Genomic Med. 2022 Jul;10(7):e1991. doi: 10.1002/mgg3.1991. Epub 2022 May 25. Mol Genet Genomic Med. 2022. PMID: 35611576 Free PMC article. Review.

7

Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.

Chen J, Tao Q, Fan L, Shen Y, Liu J, Luo H, Yang Z, Liang M, Gan J. Chen J, et al. Among authors: shen y. Mol Genet Genomic Med. 2022 Oct;10(10):e2024. doi: 10.1002/mgg3.2024. Epub 2022 Jul 30. Mol Genet Genomic Med. 2022. PMID: 35906921 Free PMC article. Review.

8

Prenatal exposure to antibiotics and risk of neurodevelopmental disorders in offspring: A systematic review and meta-analysis.

Tao Q, Shen Y, Li Y, Luo H, Yuan M, Gan J. Tao Q, et al. Among authors: shen y. Front Neurol. 2022 Nov 25;13:1045865. doi: 10.3389/fneur.2022.1045865. eCollection 2022. Front Neurol. 2022. PMID: 36504646 Free PMC article.

9

[Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene].

Luo H, Chen X, Rao X, Shen Y, Liu J, Yang Z, Gan J. Luo H, et al. Among authors: shen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):558-562. doi: 10.3760/cma.j.cn511374-20220724-00489. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37102289 Chinese.

10

[Analysis of a child featuring global developmental delay and autism due to variant of TBR1 gene and a literature review].

Liu J, Zhang J, Shen Y, Li Y, Luo H, Gan J. Liu J, et al. Among authors: shen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10;41(3):335-338. doi: 10.3760/cma.j.cn511374-20220328-00208. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38448025 Review. Chinese.

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