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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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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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Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo A, Diaz-Pena R; Scourge Cohort Group. HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19. HLA. 2023 Dec;102(6):731-739. doi: 10.1111/tan.15160. Epub 2023 Aug 1. PubMed PMID: 37528566.
AÑO: 2023; IF: 5.9
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Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB. European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis. Orphanet J Rare Dis. 2023 Jul 27;18(1):219. doi: 10.1186/s13023-023-02795-2. PubMed PMID: 37501185; PubMed Central PMCID: PMC10375694.
AÑO: 2023; IF: 3.4
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Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, Tadini G, Stepan H, Clarke A, Guillen-Navarro E, Maier-Wohlfart S, Bouroubi A, Porte F. Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia. Genes (Basel). 2023 Jan 6;14(1):153. doi: 10.3390/genes14010153. PubMed PMID: 36672894; PubMed Central PMCID: PMC9858920.
AÑO: 2023; IF: 2.8
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