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Browsing by Author Ruiz-Ferrer, Macarena

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Showing results 1 to 11 of 11
RightsPreviewIssue DateTitleAuthor(s)Type
openAccess267Spanish.pdf.jpg13-Jan-2016267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationDopazo, Joaquín; Rodríguez-Pérez, Juan Antonio CSIC ORCID; Daub, Josephine T.; Muntané, Gerard; Ruiz-Ferrer, Macarena; Méndez-Vidal, Cristina CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
openAccessgm363.pdf.jpg24-Aug-2012A map of human microRNA variation uncovers unexpectedly high levels of variabilityCarbonell, José; Alloza, Eva; Arce, Pablo; Borrego, Salud CSIC ORCID; Santoyo, Javier; Ruiz-Ferrer, Macarena; Medina, Ignacio; Jiménez-Almazán, Jorge; Méndez-Vidal, Cristina CSIC ORCID; González-del Pozo, María; Vela, Alicia; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquínartículo
closedAccess20-Feb-2006Coenzyme Q is irreplaceable by demethoxy-coenzyme Q in plasma membrane of Caenorhabditis elegansArroyo, Antonio CSIC; Santos-Ocaña, Carlos CSIC ORCID CVN ; Ruiz-Ferrer, Macarena; Padilla, Sergio; Gavilán, Angela; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Navas, Plácido CSIC ORCIDartículo
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 CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2013Genetic Basis of Hirschsprung¿s DiseaseBorrego, Salud CSIC ORCID; Ruiz-Ferrer, Macarena; Fernández, Raquel M.capítulo de libro
closedAccessaccesoRestringido.pdf.jpg2012MAX mutations cause hereditary and sporadic pheochromocytoma and paragangliomaBurnichón, Nelly; Borrego, Salud CSIC ORCID; Ruiz-Ferrer, Macarena; Robledo, Mercedesartículo
closedAccessaccesoRestringido.pdf.jpg2011Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung¿s diseaseRuiz-Ferrer, Macarena; Torroglosa, Ana; Luzón-Toro, Berta; Fernández, Raquel M.; Antiñolo, Guillermo CSIC ORCID; Mulligan, Lois M.; Borrego, Salud CSIC ORCIDartículo
closedAccessJan-2009A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung diseaseFernández, Raquel M.; Sánchez-Mejías, Avencia; Mena, Marcela; Ruiz-Ferrer, Macarena; López-Alonso, Manuel; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
closedAccess17-Jul-2008NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung diseaseRuiz-Ferrer, Macarena; Fernández, Raquel M.; Antiñolo, Guillermo CSIC ORCID; López-Alonso, Manuel; Borrego, Salud CSIC ORCIDartículo
openAccesss41598-017-06539-8.pdf.jpg24-Jul-2017Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung diseaseVillalba-Benito, Leticia; Torroglosa, Ana; Fernández, Raquel M.; Ruiz-Ferrer, Macarena; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
closedAccess28-Oct-2008Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung diseaseFernández, Raquel M.; Ruiz-Ferrer, Macarena; López-Alonso, Manuel; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo