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Showing results for lin mao yan
Search for Linmao Yan instead (1 results)
Deciphering the mutational signature of congenital limb malformations.
Sun L, Huang Y, Zhao S, Zhao J, Yan Z, Guo Y, Lin M, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Zhao Z, Li Q, Wang L, Dong X, Li Y, Li X, Qiu G; DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group; Zhang TJ, Wu Z, Tian W, Wu N. Sun L, et al. Among authors: lin m. Mol Ther Nucleic Acids. 2021 Apr 20;24:961-970. doi: 10.1016/j.omtn.2021.04.012. eCollection 2021 Jun 4. Mol Ther Nucleic Acids. 2021. PMID: 34094714 Free PMC article.
Identification of novel FBN1 variations implicated in congenital scoliosis.
Lin M, Zhao S, Liu G, Huang Y, Yu C, Zhao Y, Wang L, Zhang Y, Yan Z, Wang S, Liu S, Liu J, Ye Y, Chen Y, Yang X, Tong B, Wang Z, Yang X, Niu Y, Li X, Wang Y, Su J, Yuan J, Zhao H, Zhang S, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Ikegawa S, Zhang J, Wu Z, Wu N. Lin M, et al. J Hum Genet. 2020 Mar;65(3):221-230. doi: 10.1038/s10038-019-0698-x. Epub 2019 Dec 11. J Hum Genet. 2020. PMID: 31827250 Free PMC article.
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Zhao S, Zhang Y, Chen W, Li W, Wang S, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Zhao S, et al. Among authors: lin m. J Med Genet. 2021 Jan;58(1):41-47. doi: 10.1136/jmedgenet-2019-106823. Epub 2020 May 7. J Med Genet. 2021. PMID: 32381727 Free PMC article.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. Chen W, et al. Among authors: lin m. Hum Mutat. 2020 Jan;41(1):182-195. doi: 10.1002/humu.23907. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31471994 Free PMC article.
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.
Chen Z, Yan Z, Yu C, Liu J, Zhang Y, Zhao S, Lin J, Zhang Y, Wang L, Lin M, Huang Y, Li X, Niu Y, Wang S, Wu Z; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group; Qiu G, Zhang TJ, Wu N. Chen Z, et al. Among authors: lin m. Orphanet J Rare Dis. 2020 Sep 15;15(1):250. doi: 10.1186/s13023-020-01537-y. Orphanet J Rare Dis. 2020. PMID: 32933559 Free PMC article.
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Wu Z, Wu N. Shao J, et al. Among authors: lin m. BMC Med Genet. 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. BMC Med Genet. 2020. PMID: 32460719 Free PMC article.
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Tian W, Huang Y, Sun L, Guo Y, Zhao S, Lin M, Dong X, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Wang L, Lin J, Yan Z, Yang X, Zhao J, Qiu G, Zhang J, Wu Z, Wu N; (Deciphering Disorders Involving Scoliosis, COmorbidities) study group. Tian W, et al. Among authors: lin m. Orphanet J Rare Dis. 2020 Oct 14;15(1):288. doi: 10.1186/s13023-020-01572-9. Orphanet J Rare Dis. 2020. PMID: 33054853 Free PMC article.
27 results