Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 2015 | A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers | Rosado, Consolación; Bueno, Elena; Bueno, Elena; García-Cosmes, Pedro; González-Sarmiento, Rogelio CSIC ORCID | artículo |
openAccess | | 2014 | COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome | Rosado, Consolación; Bueno, Elena; Felipe, Carmen; González-Sarmiento, Rogelio CSIC ORCID | artículo |
closedAccess | | 2020 | Comparative genomic hybridization analysis of basal cell carcinoma | Palacios-Álvarez, Irene; Bueno, Elena; Fernández-López, Emilia; García, Juan L. CSIC ORCID CVN ; González-Sarmiento, Rogelio CSIC ORCID | carta al director |
closedAccess | | 2014 | Early-onset acral basal cell carcinomas in Gorlin syndrome | Torrelo, Antonio; Bueno, Elena; González-Sarmiento, Rogelio CSIC ORCID ; Hernández-Martín, Angela | artículo |
closedAccess | | 2020 | Multiple familial trichoepitheliomas: Ultrasonographic findings | Capusan, Tania M.; Noguera-Morel, Lucero; Bueno, Elena; Colmenero, Isabel; Torrelo, Antonio; González-Sarmiento, Rogelio CSIC ORCID ; Hernández-Martín, Angela | carta al director |
closedAccess | | 2022 | Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis | Molina, Maricel F.; Papendieck, Patricia; Sobrero, Gabriela; Balbi, Viviana A.; Belforte, Fiorella S.; Bueno, Elena; Adrover, Ezequiela; Olcese, María C.; Chiesa, Ana; Miras, Mirta B.; González, Verónica G.; Gomes Pio, Mauricio; González-Sarmiento, Rogelio CSIC ORCID ; Targovnik, Héctor M.; Rivolta, Carina M. | 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 |
openAccess | | 2015 | Study of the true clinical progression of autosomal dominant alport syndrome in a European population | Rosado, Consolación; Bueno, Elena; Felipe, Carmen; Valverde, Sebastián; González-Sarmiento, Rogelio CSIC ORCID | artículo |
closedAccess | | 2022 | Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] | Molina, Maricel F.; Papendieck, Patricia; Sobrero, Gabriela; Balbi, Viviana A.; Belforte, Fiorella S.; Bueno, Elena; Adrover, Ezequiela; Olcese, María C.; Chiesa, Ana; Miras, Mirta B.; González, Verónica G.; Gomes Pio, Mauricio; González-Sarmiento, Rogelio CSIC ORCID ; Targovnik, Héctor M.; Rivolta, Carina M. | dataset |