Li J - Search Results

1

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.

Xie H, Lin S, Chen Y, Wang W, Qi Y, Li J, Chen Q, Feng X. Xie H, et al. Among authors: li j. Medicine (Baltimore). 2023 Jun 16;102(24):e33890. doi: 10.1097/MD.0000000000033890. Medicine (Baltimore). 2023. PMID: 37327298 Free PMC article.

2

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.

Lin SZ, Feng JH, Sun LP, Ma HW, Wang WQ, Li JY. Lin SZ, et al. World J Clin Cases. 2022 Feb 26;10(6):1889-1895. doi: 10.12998/wjcc.v10.i6.1889. World J Clin Cases. 2022. PMID: 35317131 Free PMC article.

3

Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report.

Zhang SL, Lin SZ, Zhou YQ, Wang WQ, Li JY, Wang C, Pang QM. Zhang SL, et al. World J Clin Cases. 2022 May 26;10(15):5018-5024. doi: 10.12998/wjcc.v10.i15.5018. World J Clin Cases. 2022. PMID: 35801028 Free PMC article.

4

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C.

Zhang S, Lin S, Liu Z, Wang W, Li J, Chen Q, Yang L, Wang C, Pang Q. Zhang S, et al. Among authors: li j. Front Pediatr. 2022 Aug 22;10:898693. doi: 10.3389/fped.2022.898693. eCollection 2022. Front Pediatr. 2022. PMID: 36071884 Free PMC article.

5

VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report.

Wu XH, Lin SZ, Zhou YQ, Wang WQ, Li JY, Chen QD. Wu XH, et al. World J Clin Cases. 2022 Aug 26;10(24):8749-8754. doi: 10.12998/wjcc.v10.i24.8749. World J Clin Cases. 2022. PMID: 36157797 Free PMC article.

6

Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report.

Lin SZ, Xie HY, Qu YL, Gao W, Wang WQ, Li JY, Feng XC, Jin CQ. Lin SZ, et al. World J Clin Cases. 2022 Jul 26;10(21):7517-7522. doi: 10.12998/wjcc.v10.i21.7517. World J Clin Cases. 2022. PMID: 36157999 Free PMC article.

7

Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report.

Yang H, Lin SZ, Guan SH, Wang WQ, Li JY, Yang GD, Zhang SL. Yang H, et al. World J Clin Cases. 2022 Oct 26;10(30):11016-11022. doi: 10.12998/wjcc.v10.i30.11016. World J Clin Cases. 2022. PMID: 36338198 Free PMC article.

8

Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report.

Lin SZ, Ma QJ, Pang QM, Chen QD, Wang WQ, Li JY, Zhang SL. Lin SZ, et al. World J Clin Cases. 2022 Nov 6;10(31):11486-11492. doi: 10.12998/wjcc.v10.i31.11486. World J Clin Cases. 2022. PMID: 36387827 Free PMC article.

9

Retroperitoneal leiomyoma located in the broad ligament: A case report.

Zhang XS, Lin SZ, Liu YJ, Zhou L, Chen QD, Wang WQ, Li JY. Zhang XS, et al. World J Clin Cases. 2022 Nov 16;10(32):12022-12027. doi: 10.12998/wjcc.v10.i32.12022. World J Clin Cases. 2022. PMID: 36405292 Free PMC article.

10

Children with infectious pneumonia caused by Ralstonia insidiosa: A case report.

Lin SZ, Qian MJ, Wang YW, Chen QD, Wang WQ, Li JY, Yang RT, Wang XY, Mu CY, Jiang K. Lin SZ, et al. World J Clin Cases. 2023 Mar 26;11(9):2002-2008. doi: 10.12998/wjcc.v11.i9.2002. World J Clin Cases. 2023. PMID: 36998962 Free PMC article.

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