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Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.
Miller SA, Solari AP, Alberto G, Benitez Medina AC, García Ayré BM, Parisini D, Claps A, Taboas M. Miller SA, et al. Among authors: alberto g. Clin Dysmorphol. 2023 Oct 1;32(4):175-179. doi: 10.1097/MCD.0000000000000469. Epub 2023 Aug 3. Clin Dysmorphol. 2023. PMID: 37646730 No abstract available.
Efficacy and safety of the PHIL embolic agent in the treatment of intracranial dural arteriovenous fistulas: results of the PHIL-dAVF study.
Marnat G, Barreau X, Januel AC, Spelle L, Piotin M, Mounayer C, Borota L, González A, Casasco A, Keston P, Lobotesis K, Cronqvist M, Holtmannspötter M, Guimaraens L, Boccardi E, Valvassori L, Espinosa de Rueda M, Cognard C; PHIL-dAVF study investigators. Marnat G, et al. J Neurointerv Surg. 2025 Jan 8:jnis-2024-022630. doi: 10.1136/jnis-2024-022630. Online ahead of print. J Neurointerv Surg. 2025. PMID: 39778931
Upper brainstem pediatric low-grade gliomas: review and neuroendoscopic approach.
Dezena RA, Correia MM, Fujita LGA, de Souza DG, Pereira LFA, Alberto GB, Marcolino LCM, Xavier LB, Silveira SPP. Dezena RA, et al. Among authors: alberto gb. Childs Nerv Syst. 2024 Oct;40(10):3099-3105. doi: 10.1007/s00381-024-06527-0. Epub 2024 Aug 29. Childs Nerv Syst. 2024. PMID: 39207527 Review.
Characterisation of the blood RNA host response underpinning severity in COVID-19 patients.
Jackson H, Rivero Calle I, Broderick C, Habgood-Coote D, D'Souza G, Nichols S, Vito O, Gómez-Rial J, Rivero-Velasco C, Rodríguez-Núñez N, Barbeito-Castiñeiras G, Pérez-Freixo H, Barreiro-de Acosta M, Cunnington AJ, Herberg JA, Wright VJ, Gómez-Carballa A, Salas A, Levin M, Martinon-Torres F, Kaforou M; PERFORM consortium; GEN-COVID (www.gencovid.eu) study group. Jackson H, et al. Sci Rep. 2022 Jul 17;12(1):12216. doi: 10.1038/s41598-022-15547-2. Sci Rep. 2022. PMID: 35844004 Free PMC article.
A multi-tissue study of immune gene expression profiling highlights the key role of the nasal epithelium in COVID-19 severity.
Gómez-Carballa A, Rivero-Calle I, Pardo-Seco J, Gómez-Rial J, Rivero-Velasco C, Rodríguez-Núñez N, Barbeito-Castiñeiras G, Pérez-Freixo H, Cebey-López M, Barral-Arca R, Rodriguez-Tenreiro C, Dacosta-Urbieta A, Bello X, Pischedda S, Currás-Tuala MJ, Viz-Lasheras S, Martinón-Torres F, Salas A; GEN-COVID study group. Gómez-Carballa A, et al. Environ Res. 2022 Jul;210:112890. doi: 10.1016/j.envres.2022.112890. Epub 2022 Feb 22. Environ Res. 2022. PMID: 35202626 Free PMC article.
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