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Browsing by Author Martínez-Frías, María Luisa

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RightsPreviewIssue DateTitleAuthor(s)Type
openAccessA clinical and experimentall.pdf.jpgMay-2011A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformationsGarrido-Allepuz, Carlos CSIC; Haro, Endika CSIC ORCID; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica CSIC ; Ros, María A. CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2015Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndromeArroyo-Carrera, Ignacio; Gómez-Skarmeta, José Luis CSIC ORCID ; Martínez-Frías, María Luisaartículo
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; 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; Vega, Sonia; Manzanares, Miguel; 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; Bermejo, Eva; Nieto, M. Ángela CSIC ORCID ; Martínez, Salvadorartículo
closedAccessaccesoRestringido.pdf.jpg2008Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndromeCotarelo, R. P.; 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