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Navegación por Autor Cotarelo, R. P.
Mostrando resultados 1 a 3 de 3
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 2009 | A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish gypsy families | Cotarelo, R. P. CSIC; Fano, O. CSIC; Raducu, Madalina CSIC; Peña, Aránzazu CSIC ORCID; Cruces, Jesús CSIC | artículo |
openAccess | | 2014 | Clinical features and molecular characterization of a patient with muscle-eye-brain disease: A novel mutation in the POMGNT1 gene | Raducu, Madalina CSIC; Cotarelo, R. P. CSIC; Simón, Rogelio; Camacho, Ana CSIC; Rubio, Marcos; Hernández-Laín, Aurelio; Cruces, Jesús CSIC | 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 |