Wang L - Search Results

1

[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].

Gan L, Liang R, Li Y, Li M, Li Y, Zhao S, Wang L, Jia T, Dong Y. Gan L, et al. Among authors: wang l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 Oct 10;42(10):34-40. doi: 10.3760/cma.j.cn511374-20240809-00433. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025. PMID: 39779334 Chinese.

2

[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].

Dong Y, Shi X, Du K, Shi Y, Wang J, Jia T, Zhang K, Xu R, Wang L. Dong Y, et al. Among authors: wang l, wang j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):387-391. doi: 10.3760/cma.j.cn511374-20210405-00303. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35446972 Chinese.

3

Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review.

Dong Y, Lian R, Jin L, Zhao S, Tao W, Wang L, Li M, Jia T, Chen X, Cao S. Dong Y, et al. Among authors: wang l. Front Neurol. 2023 May 5;14:1152696. doi: 10.3389/fneur.2023.1152696. eCollection 2023. Front Neurol. 2023. PMID: 37213903 Free PMC article.

4

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.

Zhao S, Lian R, Jin L, Li M, Jia T, Xu F, Du K, Wang L, Guo Q, Dong Y. Zhao S, et al. Among authors: wang l. Epilepsia Open. 2024 Feb;9(1):250-257. doi: 10.1002/epi4.12862. Epub 2023 Dec 8. Epilepsia Open. 2024. PMID: 38009286 Free PMC article.

5

Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research.

Wu G, Lian R, Li M, Jin L, Jia T, Wang L, Gan L, Zhao S, Liang R, Dong Y. Wu G, et al. Among authors: wang l. Heliyon. 2024 Sep 3;10(17):e37258. doi: 10.1016/j.heliyon.2024.e37258. eCollection 2024 Sep 15. Heliyon. 2024. PMID: 39296199 Free PMC article.

6

First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review.

Dong Y, Shi X, Du K, Xu R, Jia T, Wang J, Wang L, Han R. Dong Y, et al. Among authors: wang l, wang j. Exp Ther Med. 2021 Aug;22(2):907. doi: 10.3892/etm.2021.10339. Epub 2021 Jun 25. Exp Ther Med. 2021. PMID: 34257719 Free PMC article.

7

Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.

Zhang X, Niu G, Song P, Wang L, Han R, Chu M, Guo Q, Xu Z, Yan L, Jia T. Zhang X, et al. Among authors: wang l. Transl Pediatr. 2021 Oct;10(10):2552-2562. doi: 10.21037/tp-21-403. Transl Pediatr. 2021. PMID: 34765479 Free PMC article.

8

Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.

He Z, Wang L, Zhang Y, Yin C, Niu Y. He Z, et al. Among authors: wang l. Neurol Sci. 2023 Feb;44(2):639-647. doi: 10.1007/s10072-022-06454-5. Epub 2022 Oct 18. Neurol Sci. 2023. PMID: 36253578

9

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.

Wang L, Jin Y, Chen Y, Zhao P, Shang X, Liu H, Sun L. Wang L, et al. Exp Biol Med (Maywood). 2024 Apr 8;249:10035. doi: 10.3389/ebm.2024.10035. eCollection 2024. Exp Biol Med (Maywood). 2024. PMID: 38651168 Free PMC article. Review.

10

A Multicenter Clinical Study on Treating Post-Dural Puncture Headache with an Intravenous Injection of Aminophylline.

Wu C, Lian Y, Guan D, Wang L, Miao Y, Xie N, Chen Y, Zheng Y. Wu C, et al. Among authors: wang l. Pain Physician. 2016 Jul;19(5):E761-5. Pain Physician. 2016. PMID: 27389119 Free article.

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