Mostrando resultados 5 a 15 de 15
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2018 | FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta | Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A.; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pablo; Monnot, Sophie; Ruiz-Pérez, Victor L. CSIC ORCID; Cormier-Daire, Valérie | artículo |
| 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 |
| 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 |  | 2018 | Mutaciones en FAM46A en un paciente con osteogénesis imperfecta | Ruiz-Pérez, Victor L. CSIC ORCID; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Lapunzina, Pablo | póster de congreso |
| closedAccess |  | 6-oct-2022 | Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia | Iturrate, Asier; Rivera-Barahona, Ana CSIC; Flores, Carmen-Lisset CSIC ORCID; Otaify, Ghada A.; Elhossini, Rasha; Perez-Sanz, Marina L.; Nevado, Julian; Tenorio, Jair; Triviño, Juan Carlos; Garcia-Gonzalo, Francesc R. CSIC ORCID; Piceci-Sparascio, Francesca; Luca, Alessandro De; Martínez, Leopoldo; Kalaycı, Tugba; Lapunzina, Pablo; Altunoglu, Umut; Aglan, Mona; Abdalla, Ebtesam; Ruiz-Pérez, Victor L. CSIC ORCID | 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 |
| 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 |
