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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: rodriguez s. Hum Genomics. 2021 May 10;15(1):28. doi: 10.1186/s40246-021-00328-1. Hum Genomics. 2021. PMID: 33971976 Free PMC article.
Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
Moreira C, Dapueto G, Peluffo G, Vomero A, Tapié A, Rodríguez S, Raggio V, Suárez R, Giachetto G, García L. Moreira C, et al. Among authors: rodriguez s. Bol Med Hosp Infant Mex. 2023;80(1):69-73. doi: 10.24875/BMHIM.22000039. Bol Med Hosp Infant Mex. 2023. PMID: 36867574 Free article. English.
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.
Raggio V, Graña M, Winiarski E, Mansilla S, Simoes C, Rodríguez S, Brandes M, Tapié A, Rodríguez L, Cibils L, Alonso M, Martínez J, Fernández-Calero T, Domínguez F, Mezquida MR, Castro L, Cerisola A, Naya H, Cassina A, Quijano C, Spangenberg L. Raggio V, et al. Among authors: rodriguez s, rodriguez l. Hum Genomics. 2023 Feb 27;17(1):14. doi: 10.1186/s40246-023-00463-x. Hum Genomics. 2023. PMID: 36849973 Free PMC article.
2,204 results