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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: de la osa langreo a. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
[Multimodal implementation of clinical practice guidelines on bronchiolitis: ending the overuse of diagnostic resources].
Maraña Pérez AI, Rius Peris JM, Rivas Juesas C, Torrecilla Cañas J, Hernández Muelas S, de la Osa Langreo A. Maraña Pérez AI, et al. Among authors: de la osa langreo a. An Pediatr (Engl Ed). 2018 Dec;89(6):352-360. doi: 10.1016/j.anpedi.2018.02.008. Epub 2018 May 28. An Pediatr (Engl Ed). 2018. PMID: 29853434 Free article. Spanish.