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Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Among authors: simoes rt. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.
HLA-G Ins/Del polymorphism and +3142C/G SNP are not related to neuromyelitis optica spectrum disorder (NMOSD) development, disability status or anti-aquaporin 4 presence in Brazilian patients.
Gomes NA, Silva PC, Teixeira YT, Eufrazio P, Souza AD, Rojas H, Brant R, Gomes Neto A, Christo PP, Simões RT, Fernandes KS. Gomes NA, et al. Among authors: simoes rt. J Neuroimmunol. 2020 Feb 15;339:577112. doi: 10.1016/j.jneuroim.2019.577112. Epub 2019 Nov 14. J Neuroimmunol. 2020. PMID: 31765953
Profile of patients with brain tumors and the role of nursing care.
de Magalhães KC, Vaz JP, Gontijo PA, de Carvalho GT, Christo PP, Simões RT, da Silva KR. de Magalhães KC, et al. Among authors: simoes rt. Rev Bras Enferm. 2016 Jan-Feb;69(1):138-43. doi: 10.1590/0034-7167.2016690120i. Rev Bras Enferm. 2016. PMID: 26871228 Free article.
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simões RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R. Bertrand RE, et al. Among authors: simoes rt. Genet Med. 2021 Mar;23(3):488-497. doi: 10.1038/s41436-020-01003-x. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077892 Free PMC article.
Recurrence/Regrowth in Grade I Meningioma: How to Predict?
de Carvalho GTC, da Silva-Martins WC, de Magalhães KCSF, Nunes CB, Soares AN, Tafuri LSA, Simões RT. de Carvalho GTC, et al. Among authors: simoes rt. Front Oncol. 2020 Aug 4;10:1144. doi: 10.3389/fonc.2020.01144. eCollection 2020. Front Oncol. 2020. PMID: 32903787 Free PMC article.
Levels of MMP-9 in patients with intracranial aneurysm: Relation with risk factors, size and clinical presentation.
Rojas HA, Fernandes KSDS, Ottone MR, Magalhães KCSF, Albuquerque LAF, Pereira JLB, Vieira-Júnior G, Sousa-Filho JL, Costa BS, Sandrim VC, Dellaretti M, Simões RT. Rojas HA, et al. Among authors: simoes rt. Clin Biochem. 2018 May;55:63-68. doi: 10.1016/j.clinbiochem.2018.03.005. Epub 2018 Mar 6. Clin Biochem. 2018. PMID: 29518381 Clinical Trial.
42 results