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Cassiman D, Kauppinen R, Monroy S, Lee MJ, Bonkovsky HL, Thapar M, Guillen-Navarro E, Minder AE, Hale C, Sweetser MT, Ivanova A. EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms. J Inherit Metab Dis. 2022 Nov;45(6):1163-1174. doi: 10.1002/jimd.12551. Epub 2022 Sep 18. PubMed PMID: 36069414; PubMed Central PMCID: PMC9825970.
AÑO: 2022; IF: 4.2
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36069414
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Ruiz-Hornillos J, Albert M, Real de Asua D, Herrera Abian M, de Miguel Beriain I, Guillen-Navarro E. [Prioritization of health resources in contexts of scarcity. SESPAS Report 2022]. Gac Sanit. 2022;36 Suppl 1:S51-S55. doi: 10.1016/j.gaceta.2022.04.003. Spanish. PubMed PMID: 35781149; PubMed Central PMCID: PMC9244785.
AÑO: 2022; IF: 1.9
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Fredwall S, Allum Y, AlSayed M, Alves I, Ben-Omran T, Boero S, Cormier-Daire V, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB, Wright M. Optimising care and follow-up of adults with achondroplasia. Orphanet J Rare Dis. 2022 Aug 20;17(1):318. doi: 10.1186/s13023-022-02479-3. PubMed PMID: 35987833; PubMed Central PMCID: PMC9392284.
AÑO: 2022
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Lopez-Rodriguez R, Del Pozo-Valero M, Corton M, Minguez P, Ruiz-Hornillos J, Perez-Tomas ME, Barreda-Sanchez M, Mancebo E, Villaverde C, Nunez-Moreno G, Romero R; STOP_Coronavirus Study Group; Paz-Artal E, Guillen-Navarro E, Almoguera B, Ayuso C. Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. Sci Rep. 2022 Jun 20;12(1):10369. doi: 10.1038/s41598-022-14035-x. PubMed PMID: 35725860; PubMed Central PMCID: PMC9208539.
AÑO: 2022; IF: 4.6
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Cardoso LCA, Parra A, Gil CR, Arias P, Gallego N, Romanelli V, Kantaputra PN, Lima L, Llerena Junior JC, Arberas C, Guillen-Navarro E, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants. Cancers (Basel). 2022 Aug 5;14(15):3807. doi: 10.3390/cancers14153807. PubMed PMID: 35954470; PubMed Central PMCID: PMC9367242.
AÑO: 2022; IF: 5.2
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