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Browsing by Author Martínez-Frías, María Luisa

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessJan-2010Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasiaMartínez-Frías, María Luisa; Frutos, Cristina A. de CSIC; Bermejo, Eva; Nieto, M. Ángela CSIC ORCID artículo
closedAccess4-Dec-2007Snail1 Is a Transcriptional Effector of FGFR3 Signaling during Chondrogenesis and AchondroplasiasFrutos, Cristina A. de CSIC; Vega de los Reyes, Sonia CSIC ORCID; Manzanares, Miguel CSIC ORCID; Flores, Juana María; Huertas, Héctor; Martínez-Frías, María Luisa; Nieto, M. Ángela CSIC ORCID artículo
closedAccessJan-2011Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesisMartínez-Frías, María Luisa; Egüés, X.; Puras, A.; Hualde, J.; Frutos, Cristina A. de CSIC; Bermejo, Eva; Nieto, M. Ángela CSIC ORCID ; Martínez, Salvador CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2008Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndromeCotarelo, R. P. CSIC; Martínez-Frías, María Luisa; Cruces, Jesús CSICartículo
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