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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Raggio V, Dell'Oca N, Simoes C, Tapié A, Medici C, Costa G, Rodriguez S, Greif G, Garrone E, Rovella ML, Gonzalez V, Halty M, González G, Shin JY, Shin SY, Kim C, Seo JS, Graña M, Naya H, Spangenberg L. Raggio V, et al. Among authors: costa g. Hum Genomics. 2021 May 10;15(1):28. doi: 10.1186/s40246-021-00328-1. Hum Genomics. 2021. PMID: 33971976 Free PMC article.
[Venous and cerebral sinus thrombosis in newborns and children].
Mora R, Ibarra L, Olivera V, Rosas M, Cibils L, Baltar F, Ruiz V, Turcatti E, Costa G, Mansilla S, Cerisola A, González G. Mora R, et al. Among authors: costa g. Medicina (B Aires). 2023 Sep;83 Suppl 4:95-101. Medicina (B Aires). 2023. PMID: 37714130 Free article. Spanish.
3,284 results