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Nowak W, Trelinski J, Wypasek E, de la Morena-Barrio B, de la Morena-Barrio ME, Corral J. New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV. Pol Arch Intern Med. 2022 Jan 28;132(1):16158. doi: 10.20452/pamw.16158. Epub 2021 Dec 1. No abstract available. PubMed PMID: 34851072.
AÑO: 2022; IF: 4.8
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34851072
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de la Morena-Barrio B, Orlando C, Sanchis-Juan A, Garcia JL, Padilla J, de la Morena-Barrio ME, Puruunen M, Stouffs K, Cifuentes R, Borras N, Bravo-Perez C, Benito R, Cuenca-Guardiola J, Vicente V, Vidal F, Hernandez-Rivas JM, Ouwehand W, Jochmans K, Corral J. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency. J Mol Diagn. 2022 May;24(5):462-475. doi: 10.1016/j.jmoldx.2022.01.009. Epub 2022 Feb 23. PubMed PMID: 35218943.
AÑO: 2022; IF: 4.1
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de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Minano A, de la Morena-Barrio B, Bravo-Perez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Tregouet DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays. Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708. PubMed PMID: 35486842; PubMed Central PMCID: PMC9283966.
AÑO: 2022; IF: 20.3
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Cuenca-Guardiola J, de la Morena-Barrio B, Garcia JL, Sanchis-Juan A, Corral J, Fernandez-Breis JT. Improvement of large copy number variant detection by whole genome nanopore sequencing. J Adv Res. 2023 Aug;50:145-158. doi: 10.1016/j.jare.2022.10.012. Epub 2022 Oct 30. PubMed PMID: 36323370; PubMed Central PMCID: PMC10403694.
AÑO: 2023; IF: 11.4
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Cifuentes R, Padilla J, de la Morena-Barrio ME, de la Morena-Barrio B, Bravo-Perez C, Garrido-Rodriguez P, Llamas M, Minano A, Vicente V, Lozano ML, Corral J. Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency. Int J Mol Sci. 2023 Mar 6;24(5):5023. doi: 10.3390/ijms24055023. PubMed PMID: 36902454; PubMed Central PMCID: PMC10002544.
AÑO: 2023; IF: 4.9
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