| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | may-2011 | A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations | Garrido-Allepuz, Carlos CSIC; Haro, Endika CSIC ORCID; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica CSIC ORCID ; Ros, María A. CSIC ORCID | artículo |
| closedAccess |  | ene-2023 | A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies | González Álvarez, Luis Francisco; Tenorio, Jair; Poletta, Fernando A.; Santos-Simarro, Fernando; Arias, Pedro; Gallego, Natalia; Orioli, Iêda Maria; Mundlos, Stefan; Castilla, Eduardo E.; Martinez-Glez, Víctor; Martínez-Frías, María Luisa; Ruiz-Pérez, Victor L. CSIC ORCID; Nevado, Julian; Lapunzina, Pablo | artículo |
| closedAccess |  | 2015 | Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome | Arroyo-Carrera, Ignacio; Gómez-Skarmeta, José Luis CSIC ORCID ; Martínez-Frías, María Luisa | artículo |
| closedAccess |  | 2014 | Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation | Martínez-Frías, María Luisa; Gonzalo Ocejo-Vinyals, Javier; Arteaga, Rosa; Martínez-Fernández, María Luisa; MacDonald, Alexandra; Pérez-Belmonte, Elena; Bermejo, Eva; Martínez, Salvador CSIC ORCID | artículo |
| closedAccess | | ene-2010 | Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia | Martínez-Frías, María Luisa; Frutos, Cristina A. de CSIC; Bermejo, Eva; Nieto, M. Ángela CSIC ORCID | artículo |
| closedAccess | | 4-dic-2007 | Snail1 Is a Transcriptional Effector of FGFR3 Signaling during Chondrogenesis and Achondroplasias | Frutos, 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 |
| closedAccess | | ene-2011 | Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis | Martínez-Frías, María Luisa; Egüés, X.; Puras, A.; Hualde, J.; Frutos, Cristina A. de CSIC; Bermejo, Eva; Nieto, M. Ángela CSIC ORCID ; Martínez, Salvador CSIC ORCID | artículo |
| closedAccess |  | 2008 | Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome | Cotarelo, R. P. CSIC; Martínez-Frías, María Luisa; Cruces, Jesús CSIC | artículo |
| closedAccess |  | 2009 | Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling | Valencia, María CSIC; Martínez-Frías, María Luisa; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
