Mostrando resultados 5 a 9 de 9
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | dic-2022 | FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects | Cospain, Auriane; Rivera-Barahona, Ana CSIC; Dumontet, Erwan; Gener, Blanca; Bailleul-Forestier, Isabelle; Meyts, Isabelle; Jouret, Guillaume; Isidor, Bertrand; Brewer, Carole; Wuyts, Wim; Moens, Leen; Delafontaine, Selket; Wing Keung Lam, Wayne; Van Den Bogaert, Kris; Boogaerts, Anneleen; Scalais, Emmanuel; Besnard, Thomas; Cogne, Benjamin; Guissard, Christophe; Rollier, Paul; Carre, Wilfrid; Bouvet, Regis; Tarte, Karin; Gómez Carmona, Ricardo CSIC; Lapunzina, Pablo; Odent, Sylvie; Faoucher, Marie; Dubourg, Christele; Ruiz-Pérez, Victor L. CSIC ORCID; Devriendt, Koen; Pasquier, Laurent; Pérez-Jurado, Luis Alberto | artículo |
| openAccess |  | 8-abr-2015 | Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man | Rivera-Barahona, Ana CSIC; Sánchez-Alcudia, Rocío CSIC; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén CSIC ORCID; Ugarte, Magdalena CSIC ; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. CSIC ORCID | 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 |  | nov-2018 | Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations | Rivera-Barahona, Ana CSIC; Navarrete, Rosa; García-Rodríguez, Raquel; Richard, Eva CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID | artículo |
| 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 |
