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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B. Brasil S, et al. Among authors: riera c. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. Orphanet J Rare Dis. 2018. PMID: 30041674 Free PMC article.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE; ENIGMA Consortium. Cline MS, et al. Among authors: riera c. Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23. Hum Mutat. 2019. PMID: 31294896 Free PMC article.
Assessment of the exposure to Phlebotomus perniciosus and the presence of anti-Leishmania infantum antibodies in stray cats in an endemic region of Spain, and their potential correlation with environmental factors.
Marteles D, Martínez MV, Fernández A, Riera C, Fisa R, Roca-Geronès X, Chavez-Fisa S, Castañeda S, Ramírez JD, Davis JE, Sumova P, Volf P, Verde M, González A, Alcover MM, Villanueva-Saz S. Marteles D, et al. Among authors: riera c. Vet Q. 2024 Dec;44(1):1-8. doi: 10.1080/01652176.2024.2421308. Epub 2024 Nov 7. Vet Q. 2024. PMID: 39508077 Free PMC article.
301 results