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Author Title Type [ Year
] Filters: Type is Journal Article and Author is Carmona, Rosario [Clear All Filters]
The Iberian Roma Population Variant Server (IRPVS). J Genet Genomics. 2024. doi:10.1016/j.jgg.2024.03.006.
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel Variant and Possible Modifier Gene. Cells. 2024;13(6). doi:10.3390/cells13060524.
A crowdsourcing database for the copy-number variation of the Spanish population. Hum Genomics. 2023;17(1):20. doi:10.1186/s40246-023-00466-8.
Evidence of the association between increased use of direct oral anticoagulants and a reduction in the rate of atrial fibrillation-related stroke and major bleeding at the population level (2012-2019). Med Clin (Barc). 2023. doi:10.1016/j.medcli.2023.10.008.
Real-world evidence with a retrospective cohort of 15,968 COVID-19 hospitalized patients suggests 21 new effective treatments. Virol J. 2023;20(1):226. doi:10.1186/s12985-023-02195-9.
Assessing the Impact of SARS-CoV-2 Lineages and Mutations on Patient Survival. Viruses. 2022;14(9). doi:10.3390/v14091893.
Incidence and Prevalence of Children's Diffuse Lung Disease in Spain. Arch Bronconeumol. 2022;58(1):22-29. doi:10.1016/j.arbres.2021.06.001.
Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus. Sci Rep. 2022;12(1):11219. doi:10.1038/s41598-022-15549-0.
CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021;49(D1):D1130-D1137. doi:10.1093/nar/gkaa794.
SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.