Mostrando resultados 5 a 17 de 17
< Anterior
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 5-nov-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome | Palencia-Campos, Adrián CSIC; Aoto, Phillip C.; Machal, Erik M.F.; Rivera-Barahona, Ana CSIC; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Hul, Wim Van; Huber, Céline; Bonneau, Dominique; Hildebrand, Michael S.; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F.; Schneider, Amy L.; Scheffer, Ingrid E.; Kibæk, Maria; Kristiansen, Britta S.; Issa, Mahmoud; Mehrez, Mennat I.; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Steen Skålhegg, Bjørn; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Jønch, Aia E.; Luca, Alessandro De; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, A.; Wallis, Mathew; Lapunzina, Pablo; Herberg, Friedrich W.; Taylor, Susan S. T.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2017 | GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome | Palencia-Campos, Adrián CSIC; Ullah, Asmat; Nevado, Julian; Yildirim, Ruken; Unal, Edip; Ciorraga, Maria CSIC; Barruz, Pilar; Chico, Lucia; Piceci-Sparascio, Francesca; Guida, Valentina; De Luca, Alessandro; Kayserili, Hülya; Ullah, Irfan; Morales, Aixa V. CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2020 | Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B | Palencia-Campos, Adrián CSIC; Soto‐Bielicka, Patricia CSIC; Torres, Antonio; Carretero, Alba; 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 |
| closedAccess |  | 2018 | La inactivación de GLI1 causa alteraciones del desarrollo solapantes con el Síndrome de Ellis-vanCreveld | Palencia-Campos, Adrián CSIC; Ullah, Asmat; Nevado, Julian; Yildirim, Ruken; Unal, Edip; Ciorraga, Maria CSIC; Barruz, Pilar; Chico, Lucia; Piceci-Sparascio, Francesca; Guida, Valentina; De Luca, Alessandro; Kayserili, Hülya; Ullah, Irfan; Burmeister, M.; Lapunzina, Pablo; Ahmad, W.; Morales, Aixa V. CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| openAccess | | 27-jul-2023 | Table1_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.XLSX [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 |
