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Browsing by Author Goodship, Judith A.

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessrestringido.pdf.jpgMar-2006De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndromeHeinen, Stephan; Sánchez-Corral, Pilar CSIC ORCID; Jackson, Michael; Strain, Lisa; Goodship, Judith A.; Kemp, Elizabeth J.; Skerka, Christine; Jokiranta, T. Sakari; Meyers, Kevin; Wagner, Eric; Robitaille, Pierre; Esparza-Gordillo, Jorge; Rodríguez de Córdoba, Santiago ; Zipfel, Peter F.; Goodship, Timothy H.J.artículo
openAccessDisparate roles.pdf.jpg23-Jan-2006Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutationPan-Hammarström, Qiang; Ruiz-Pérez, Victor L. CSIC ORCID; Goodship, Judith A.artículo
closedAccessaccesoRestringido.pdf.jpg2009Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to Hedgehog ligandsRuiz-Pérez, Victor L. CSIC ORCID; Goodship, Judith A.artículo
closedAccessaccesoRestringido.pdf.jpgAug-2007Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte ciliaRuiz-Pérez, Victor L. CSIC ORCID; Rodríguez-Andrés, M. Elena; Goodship, Judith A.artículo
closedAccessaccesoRestringido.pdf.jpg2012Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial basePacheco, María CSIC; Valencia, María CSIC; Caparrós-Martín, José A. CSIC ORCID; Mulero, Francisca; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCIDartículo
openAccessBMC biology   2011 vol9 n14 pp1.pdf.jpg28-Feb-2011Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleusRuiz-Pérez, Victor L. CSIC ORCID; Goodship, Judith A.artículo
closedAccessaccesoRestringido.pdf.jpg2015Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the ciliumCaparrós-Martín, José A. CSIC ORCID; Aglan, Mona; Temtamy, Samia; Valencia, María CSIC; Vázquez, Laura; Nevado, Julian; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2009Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signalingValencia, María CSIC; Martínez-Frías, María Luisa; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCIDartículo