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Navegación por Autor Marcos Luque, Irene
Mostrando resultados 1 a 4 de 4
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | mar-2019 | Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome. A case report | Bravo-Gil, Nereida CSIC; Marcos Luque, Irene CSIC; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 2019 | NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay | Mavillard, Fabiola CSIC ORCID; Madruga, Marcos CSIC; Rivas Infante, Eloy; Servián Morilla, E. CSIC ORCID; Ávila Polo, Rainiero CSIC; Marcos Luque, Irene CSIC; Morón, Francisco J. CSIC ORCID CVN; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
openAccess | | nov-2018 | Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation | Delgado-Pecellín, Isabel; Pérez Ruiz, Estela; Álvarez-Ríos, Ana Isabel CSIC ORCID; Delgado-Pecellín, C.; Yahyaoui, Raquel; Carrasco Hernández, Laura CSIC; Marcos Luque, Irene CSIC; Caro Aguilera, Pilar; Moreno Valera, María José; Quintana Gallego, María Esther CSIC | artículo |
closedAccess | | 2011 | Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male | Pieras, Juan Ignacio; Muñoz-Cabello, Beatriz; Borrego, Salud CSIC ORCID; Marcos Luque, Irene CSIC; Perona, Javier S. CSIC ORCID ; Madruga, Marcos CSIC; Antiñolo, Guillermo CSIC ORCID | artículo |