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Navegación por Autor Ciria, S.
Mostrando resultados 1 a 7 de 7
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2011 | A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia | Cañueto, Javier; Ciria, S.; González-Sarmiento, Rogelio CSIC ORCID | artículo |
| closedAccess |  | 2010 | Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: A high frequency of partial deletions in a Spanish population | Cañueto, Javier; Ciria, S.; González-Sarmiento, Rogelio CSIC ORCID | artículo |
| closedAccess |  | 2011 | Buschke–Ollendorff Syndrome with Striking Phenotypic Variation Resulting from a Novel c.2203C>T Nonsense Mutation in LEMD3 | Yuste-Chaves, Manuela; Cañueto, Javier; Ciria, S.; González-Sarmiento, Rogelio CSIC ORCID | artículo |
| closedAccess |  | 2012 | Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature | Cañueto, Javier; Ciria, S.; Sánchez-Tapia, E. M.; González-Sarmiento, Rogelio CSIC ORCID | artículo |
| closedAccess |  | 2018 | Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome | Alonso, Natalia; Cañueto, Javier; Ciria, S.; Bueno, Elena; Palacios-Álvarez, Irene; Alegre, M.; Badenas, C.; Barreiro, A.; Peña, Laura; Maldonado, C.; Nespeira-Jato, M. V.; Peña-Penabad, C.; Azon, A.; Gavrilova, M.; Ferrer, I.; Sanmartin, O.; Robles, L.; Hernández-Martín, Angela; Urioste, Miguel; Puig, S.; Puig, L.; González-Sarmiento, Rogelio CSIC ORCID | artículo |
| closedAccess |  | 2011 | Papular elastorrhexis and Buschke-Ollendorff syndrome are different entities | Cañueto, Javier; Ciria, S.; González-Sarmiento, Rogelio CSIC ORCID | artículo |
| closedAccess |  | 2012 | Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain | Hernández-Martín, Angela; Ciria, S.; González-Sarmiento, Rogelio CSIC ORCID ; Torrelo, Antonio | artículo |
