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Browsing by Author Agustín, Juan Carlos de

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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
closedAccessFeb-2009Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancyAntiñolo, Guillermo ; Agustín, Juan Carlos de; Losada, Antonio; Ontanilla, Antonio; García Perla, Albertoartículo
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
openAccesssrep21160.pdf.jpg16-Feb-2016Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung diseaseEnguix-Riego, María del Valle; Torroglosa, Ana; Fernández, Raquel M.; Moya-Jiménez, María José; Agustín, Juan Carlos de; Antiñolo, Guillermo ; Borrego, Salud artículo
openAccessspectrum_semaphorin_3A_Luzon.pdf.PDF.jpg23-Jan-2013Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patientsLuzón-Toro, Berta; Fernández, Raquel M.; Torroglosa, Ana; Agustín, Juan Carlos de; Méndez-Vidal, Cristina ; Segura, Dolores Isabel; Antiñolo, Guillermo ; Borrego, Salud artículo