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Amate-Garcia G, Ballesta-Martinez MJ, Serrano-Lorenzo P, Garrido-Moraga R, Gonzalez-Quintana A, Blazquez A, Rubio JC, Garcia-Consuegra I, Arenas J, Ugalde C, Moran M, Guillen-Navarro E, Martin MA. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. PubMed PMID: 36675256; PubMed Central PMCID: PMC9865986.
AÑO: 2023; IF: 4.9
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36675256
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COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature. 2023 Sep;621(7977):E7-E26. doi: 10.1038/s41586-023-06355-3. Epub 2023 Sep 6. No abstract available. PubMed PMID: 37674002; PubMed Central PMCID: PMC10482689.
AÑO: 2023; IF: 50.5
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Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta-Martinez MJ, Guillen-Navarro E. Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases. An Pediatr (Engl Ed). 2022 Mar;96(3):253-255. doi: 10.1016/j.anpede.2021.03.005. Epub 2022 Mar 16. No abstract available. PubMed PMID: 35305950.
AÑO: 2022
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Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marin Del Barrio S, Heath KE, Marin Reina P, Guillen-Navarro E, Santos Simarro F, Riano Galan I, Yeste Fernandez D, Leiva-Gea I. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. PubMed PMID: 36347803.
AÑO: 2022
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Zozaya N, Caballero T, Gonzalez-Quevedo T, Setien PG, Gonzalez MA, Jodar R, Poveda-Andres JL, Guillen-Navarro E, Cuadrado AR, Hidalgo-Vega A. A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain. Glob Reg Health Technol Assess. 2022 Jan 25;9:14-21. doi: 10.33393/grhta.2022.2333. eCollection 2022 Jan-Dec. PubMed PMID: 36628319; PubMed Central PMCID: PMC9768612.
AÑO: 2022
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