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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2010 | Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Valencia, María CSIC; Letón, Rocío; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2012 | Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta | Valencia, María CSIC; Caparrós-Martín, José A. CSIC; Pulido, Veronica; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| openAccess | | 27-jul-2023 | Image1_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image2_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image3_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image4_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image5_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image6_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image7_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image8_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess |  | 2017 | Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Valencia, María CSIC; Nevado, Julian; Vallespin, Elena; Pozo, Angela del; Prior de Castro, Carmen; Calatrava-Ferreras, Lucia; Gutiérrez, Pilar; Bueno, Ana M.; Sagastizabal, Belen; Guillén-Navarro, Encarna; Ballesta-Martinez, Maria; Gonzalez, Vanesa; Basaran, Sarenur Y.; Buyukoglan, Ruksan; Sarikepe, Bilge; Espinoza-Valdez, Cecilia; Cammarata-Scalisi, Francisco; Martinez-Glez, Víctor; Heath, Karen E.; Lapunzina, Pablo; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2015 | Mutaciones de “splicing” en un nuevo gen ciliar como causa del síndrome de Ellis-van Creveld | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Valencia, María CSIC; Vázquez, Laura; Nevado, Julian; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| closedAccess |  | 2012 | Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum | Puig-Hervás, Maria Trinidad; Valencia, María CSIC; Pulido, Veronica; Caparrós-Martín, José A. CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2013 | Mutations in WNT1 cause different forms of bone fragility | Caparrós-Martín, José A. CSIC; Ruiz-Pérez, Victor L. CSIC ORCID; Kornak, Uwe; Wollnik, Bernd | artículo |
| closedAccess |  | 2014 | OSX/SP7 mutations and osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Valencia, María CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | capítulo de libro |
| openAccess |  | 2019 | Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 15-jun-2019 | Recessive mutations in muscle-specific isoforms of Fxr1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| closedAccess |  | 2014 | Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects | Valencia, María CSIC; Caparrós-Martín, José A. CSIC; García-Verdugo, José Manuel; Temtamy, Samia; Aglan, Mona; Ruiz-Pérez, Victor L. CSIC ORCID; Ostergaard, Elsebet | artículo |
| openAccess |  | 9-oct-2019 | Sequence determinants of substrate ambiguity in a HAD phosphosugar phosphatase of Arabidopsis Thaliana | Caparrós-Martín, José A. CSIC; McCarthy-Suárez, Iva CSIC; Culiañez Maciá, Francisco A. CSIC | artículo |
| closedAccess |  | 2015 | Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Valencia, María CSIC; Vázquez, Laura; Nevado, Julian; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
