Mostrando resultados 59 a 68 de 68
< Anterior
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |
| closedAccess |  | 2017 | Síndrome de Ellis-van Creveld: una ciliopatía directamente implicada en la vía de señalización de Hedgehog | Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| 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 |
| 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 |
| closedAccess |  | 2013 | The ciliary EVC/EVC2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia | Caparrós-Martín, José A. CSIC; Valencia, María CSIC; Reytor, Edel CSIC; Pacheco, María CSIC; Fernández, Margarita CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | jun-2021 | The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders | Lapunzina, Pablo; Tenorio, Jair; Nevado, Julian; Campos Barros, Ángel; Pachajoa, Harry; Ruiz-Pérez, Victor L. CSIC ORCID; Castilla, Eduardo E. | artículo |
| closedAccess |  | 2014 | Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta | Guillén-Navarro, Encarna; Valencia, María CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2009 | Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling | Valencia, María CSIC; Martínez-Frías, María Luisa; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
