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Castelbon Fernandez FJ, Barreda Sanchez M, Arranz Canales E, Hernandez Contreras ME, Solares I, Morales Conejo M, Munoz Cuadrado A, Casado Gomez A, Yebenes Cortes M, Guillen Navarro E. The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study. Med Clin (Barc). 2024 Feb 9;162(3):103-111. doi: 10.1016/j.medcli.2023.08.009. Epub 2023 Oct 12. English, Spanish. PubMed PMID: 37838536.
AÑO: 2024; IF: 2.1
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37838536
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Barreda-Sanchez M, Guillen-Navarro E. From basic research to clinical practice: RNA interference. Med Clin (Barc). 2023 Sep;159 Suppl 1:S33-S37. doi: 10.1016/j.medcli.2023.05.030. Epub 2023 Oct 10. No abstract available. English, Spanish. PubMed PMID: 37827889.
AÑO: 2023; IF: 2.6
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Barreda-Sanchez M, Guillen-Navarro E. Impact of acute hepatic porphyrias on the quality of life of patients according to the frequency of crises. Med Clin (Barc). 2023 Sep;159 Suppl 1:S15-S18. doi: 10.1016/j.medcli.2023.03.040. Epub 2023 Oct 10. No abstract available. English, Spanish. PubMed PMID: 37827886.
AÑO: 2023; IF: 2.6
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Ballesta-Martinez MJ, Perez-Fernandez V, Lopez-Gonzalez V, Sanchez-Soler MJ, Serrano-Anton AT, Rodriguez-Pena LI, Barreda-Sanchez M, Armengol-Dulcet L, Guillen-Navarro E. Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice. Orphanet J Rare Dis. 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. PubMed PMID: 37480025; PubMed Central PMCID: PMC10362575.
AÑO: 2023; IF: 3.4
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Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillen-Navarro E, Munoz-Hernandez H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. PubMed PMID: 37372360; PubMed Central PMCID: PMC10297832.
AÑO: 2023; IF: 2.8
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