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Browsing by Author Núñez-Torres, Rocío

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Showing results 1 to 7 of 7
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2012Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM geneFernández, Raquel M.; Núñez-Torres, Rocío; García-Díaz, Lutgardo; Agustín, Juan Carlos de; Antiñolo, Guillermo Artículo
openAccessjournal.pone.0036524.pdf.jpg2012Comprehensive analysis of NRG1 common and rare variants in hirschsprung patientsLuzón-Toro, Berta; Torroglosa, Ana; Núñez-Torres, Rocío; Enguix-Riego, María del Valle; Fernández, Raquel M.; Agustín, Juan Carlos de; Antiñolo, Guillermo ; Borrego, Salud Artículo
openAccess1471-2350-12-138.pdf.jpg13-Oct-2011Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of eventsNúñez-Torres, Rocío; Fernández, Raquel M.; Acosta, Manuel Jesús; Enguix-Riego, María del Valle; Marbá, Martina; Agustín, Juan Carlos de; Castaño, Luis; Antiñolo, Guillermo ; Borrego, Salud Artículo
openAccessjournal.pone.0023475.pdf.jpg12-Aug-2011Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCRRuiz-Ferrer, Macarena; Torroglosa, Ana; Núñez-Torres, Rocío; Agustín, Juan Carlos de; Antiñolo, Guillermo ; Borrego, Salud Artículo
openAccess1750-1172-7-103-S1.TIFF.jpg28-Dec-2012Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung¿s diseaseFernández, Raquel M.; Bleda, Marta; Núñez-Torres, Rocío; Medina, Ignacio; Luzón-Toro, Berta; García-Alonso, Luz; Torroglosa, Ana; Marbá, Martina; Enguix-Riego, María del Valle; Montaner, David; Antiñolo, Guillermo ; Dopazo, Joaquín; Borrego, Salud Artículo
openAccess1471-2350-11-137.pdf.jpg22-Sep-2010Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 regionFernández, Raquel M.; Núñez-Torres, Rocío; González-Meneses, Antonio; Antiñolo, Guillermo ; Borrego, Salud Artículo
openAccess1471-2350-11-71.pdf.jpg11-May-2010Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung diseaseSánchez-Mejías, Avencia; Núñez-Torres, Rocío; Fernández, Raquel M.; Antiñolo, Guillermo ; Borrego, Salud Artículo