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Page 1
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.
Miranda-Fernández MC, Ramírez-Oyaga S, Restrepo CM, Huertas-Quiñones VM, Barrera-Castañeda M, Quero R, Hernández-Toro CJ, Tamar Silva C, Laissue P, Cabrera R. Miranda-Fernández MC, et al. Among authors: huertas quinones vm. Mol Syndromol. 2018 May;9(3):164-169. doi: 10.1159/000488820. Epub 2018 Apr 28. Mol Syndromol. 2018. PMID: 29928183 Free PMC article.
Identification of clinically relevant phenotypes in patients with Ebstein anomaly.
Cabrera R, Miranda-Fernández MC, Huertas-Quiñones VM, Carreño M, Pineda I, Restrepo CM, Silva CT, Quero R, Cano JD, Manrique DC, Camacho C, Tabares S, García A, Sandoval N, Moreno Medina KJ, Dennis Verano RJ. Cabrera R, et al. Among authors: huertas quinones vm. Clin Cardiol. 2018 Mar;41(3):343-348. doi: 10.1002/clc.22870. Epub 2018 Mar 22. Clin Cardiol. 2018. PMID: 29569399 Free PMC article.
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.
Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R. Velandia-Piedrahita CA, et al. Among authors: huertas quinones vm. Appl Clin Genet. 2020 Dec 17;13:233-240. doi: 10.2147/TACG.S282240. eCollection 2020. Appl Clin Genet. 2020. PMID: 33364810 Free PMC article.