Shi L - Search Results

1

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou XQ, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X. Liu Q, et al. Among authors: shi l. J Med Genet. 2012 Feb;49(2):79-82. doi: 10.1136/jmedgenet-2011-100653. Epub 2011 Dec 29. J Med Genet. 2012. PMID: 22209761

2

[CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea].

Liang XF, Xiao W, Shi L, Hua R, Zhang X. Liang XF, et al. Among authors: shi l. Zhonghua Yan Ke Za Zhi. 2011 Apr;47(4):310-3. Zhonghua Yan Ke Za Zhi. 2011. PMID: 21612679 Chinese.

3

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y. Lin Z, et al. Among authors: shi l. Am J Hum Genet. 2012 Nov 2;91(5):906-11. doi: 10.1016/j.ajhg.2012.08.029. Epub 2012 Oct 11. Am J Hum Genet. 2012. PMID: 23063621 Free PMC article.

4

Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Sensorimotor Gating but Normal Motor Coordination Abilities.

Ren Y, Shen Y, Si N, Fan S, Zhang Y, Xu W, Shi L, Zhang X. Ren Y, et al. Among authors: shi l. Front Genet. 2021 Apr 6;12:639935. doi: 10.3389/fgene.2021.639935. eCollection 2021. Front Genet. 2021. PMID: 33889180 Free PMC article.

5

Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.

Shen Y, Shu S, Ren Y, Xia W, Chen J, Dong L, Ge H, Fan S, Shi L, Peng B, Zhang X. Shen Y, et al. Among authors: shi l. Front Genet. 2021 May 7;12:643452. doi: 10.3389/fgene.2021.643452. eCollection 2021. Front Genet. 2021. PMID: 34025715 Free PMC article.

6

An integrated strategy to identify COVID-19 causal genes and characteristics represented by LRRC37A2.

Zhu Z, Chen X, Wang C, Zhang S, Yu R, Xie Y, Yuan S, Cheng L, Shi L, Zhang X. Zhu Z, et al. Among authors: shi l. J Med Virol. 2023 Feb;95(2):e28585. doi: 10.1002/jmv.28585. J Med Virol. 2023. PMID: 36794676

7

Blood microbial analyses reveal long-term effects of SARS-CoV-2 infection on patients who recovered from COVID-19.

Wang P, Zhang S, Qi C, Wang C, Zhu Z, Shi L, Cheng L, Zhang X. Wang P, et al. Among authors: shi l. Comput Biol Med. 2024 Jan;168:107721. doi: 10.1016/j.compbiomed.2023.107721. Epub 2023 Nov 19. Comput Biol Med. 2024. PMID: 38016374

8

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Wang C, et al. Among authors: shi l. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. Nat Genet. 2012. PMID: 22327515

9

microbioTA: an atlas of the microbiome in multiple disease tissues of Homo sapiens and Mus musculus.

Wang P, Zhang S, He G, Du M, Qi C, Liu R, Zhang S, Cheng L, Shi L, Zhang X. Wang P, et al. Among authors: shi l. Nucleic Acids Res. 2023 Jan 6;51(D1):D1345-D1352. doi: 10.1093/nar/gkac851. Nucleic Acids Res. 2023. PMID: 36189892 Free PMC article.

10

gutMDisorder v2.0: a comprehensive database for dysbiosis of gut microbiota in phenotypes and interventions.

Qi C, Cai Y, Qian K, Li X, Ren J, Wang P, Fu T, Zhao T, Cheng L, Shi L, Zhang X. Qi C, et al. Among authors: shi l. Nucleic Acids Res. 2023 Jan 6;51(D1):D717-D722. doi: 10.1093/nar/gkac871. Nucleic Acids Res. 2023. PMID: 36215029 Free PMC article.

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