Li L - Search Results

1

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S. Li L, et al. Among authors: li m. Mol Genet Genomic Med. 2020 Feb;8(2):e1076. doi: 10.1002/mgg3.1076. Epub 2019 Dec 13. Mol Genet Genomic Med. 2020. PMID: 31833240 Free PMC article.

2

A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.

Li L, Ji J, Han M, Xu Y, Zhang X, Liu W, Liu S. Li L, et al. Immunol Invest. 2020 Apr;49(3):307-316. doi: 10.1080/08820139.2019.1638397. Epub 2019 Aug 12. Immunol Invest. 2020. PMID: 31401902

3

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.

Li X, Li L, Sun Y, Lv F, Zhang G, Liu W, Zhang M, Jiang H, Liu S. Li X, et al. Among authors: li l. BMC Med Genet. 2019 Aug 27;20(1):146. doi: 10.1186/s12881-019-0875-y. BMC Med Genet. 2019. PMID: 31455269 Free PMC article.

4

A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family.

Li L, Yu J, Zhang X, Han M, Liu W, Li H, Liu S. Li L, et al. Among authors: li h. Mol Med Rep. 2020 Jan;21(1):387-392. doi: 10.3892/mmr.2019.10818. Epub 2019 Nov 12. Mol Med Rep. 2020. PMID: 31746429

5

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.

Li L, Liu W, Zhang L, Wang F, Wang F, Gu M, Wang X, Liu S. Li L, et al. Endocrine. 2021 Apr;72(1):147-156. doi: 10.1007/s12020-020-02437-8. Epub 2020 Aug 15. Endocrine. 2021. PMID: 32803677

6

Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.

Li L, Jing Z, Cheng L, Liu W, Wang H, Xu Y, Zheng X, Yu X, Liu S. Li L, et al. J Gene Med. 2020 Nov;22(11):e3272. doi: 10.1002/jgm.3272. Epub 2020 Sep 28. J Gene Med. 2020. PMID: 32889728

7

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.

Li L, Jia C, Li X, Wang F, Wang Y, Chen Y, Liu S, Zhao D. Li L, et al. Among authors: li x. Clin Chim Acta. 2021 Jul;518:162-169. doi: 10.1016/j.cca.2021.03.015. Epub 2021 Mar 24. Clin Chim Acta. 2021. PMID: 33773966

8

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome.

Li L, Bu X, Ji Y, Tan P, Liu S. Li L, et al. Front Pediatr. 2021 Apr 20;9:651621. doi: 10.3389/fped.2021.651621. eCollection 2021. Front Pediatr. 2021. PMID: 33959574 Free PMC article.

9

The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5.

Dong L, Li L, Zhang X, Xu X, Han M, Liu S. Dong L, et al. Among authors: li l. Int J Dev Neurosci. 2021 Dec;81(8):706-716. doi: 10.1002/jdn.10147. Epub 2021 Sep 2. Int J Dev Neurosci. 2021. PMID: 34405433

10

[Analysis of an epilepsy family with intellectual disability].

Li LS, Ding Y, Ren YB, Zhang X, Wang FQ, Liu SG. Li LS, et al. Zhonghua Er Ke Za Zhi. 2021 Oct 2;59(10):884-886. doi: 10.3760/cma.j.cn112140-20210611-00493. Zhonghua Er Ke Za Zhi. 2021. PMID: 34587688 Chinese.

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