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Browsing by Author Rivera-Barahona, Ana

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Showing results 1 to 9 of 9
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openAccessDesviatLR_AlteredRedoxHomeostasis.pdf.jpg20-Mar-2018Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaRichard, Eva CSIC ORCID; Gallego-Villar, Lorena CSIC ORCID; Rivera-Barahona, Ana CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2021Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactylyHorn, Denise; Fernández-Núñez, Elisa CSIC; Gómez Carmona, Ricardo CSIC; Rivera-Barahona, Ana CSIC; Nevado, Julian; Schwartzmann, Sarina; Ehmke, Nadja; Lapunzina, Pablo; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Boschann, Felix; Ruiz-Pérez, Victor L. CSIC ORCIDartículo
openAccess2022 Clin Genet 101-481.pdf.jpgMay-2022CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiativeLuque, Juan M. CSIC; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz CSIC ORCID; Heredia, Miguel CSIC; Lopez Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pia; Artuch, Rafael; Fillat, Cristina CSIC; Pérez-Jurado, Luis Alberto; Montoliu, Lluís CSIC ORCID ; Carracedo, Ángel; Millán, José María; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo; Albiñana, Virginia CSIC; Arjona, Emilia CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Botella, Luisa María CSIC ORCID ; Pinto, Sheila CSIC; Rodríguez de Córdoba, Santiago ; Ruiz, Ángela; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID; Bravo-Gil, Nereida CSIC; González-del Pozo, María; Méndez-Vidal, Cristina CSIC ORCID; Arbones, Maria L. CSIC ORCID ; Caparrós-Martín, José Antonio; Cediel, Rafael CSIC; Contreras, Julio CSIC; Estañ, María Cristina CSIC; Guerrero-López, Rosa CSIC; Jiménez-Estrada, Juan Andrés CSIC; Manguan-García, Cristina CSIC ORCID; Murillo-Cuesta, Silvia CSIC ORCID; Palencia-Campos, Adrián CSIC; Perona Abellón, Rosario CSIC ORCID; Rivera-Barahona, Ana CSIC; Rodriguez-de la Rosa, Lourdes CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID; Sastre, Leandro CSIC ORCID; Valencia, María CSIC; Varela-Nieto, Isabel CSIC ORCID ; Cervera, Javier; Cima, Sergio de CSIC ORCID; Gougeard, Nadine CSIC ORCID; Heredia, Miguel CSIC; Llácer, José Luis CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Marina, Alberto CSIC ORCID ; Mollá, Belén CSIC ORCID; Moreno-Estellés, Mireia CSIC ORCID; Pérez-Jiménez, Eva CSIC ORCID; Rubio, Vicente CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Cortés-Rodríguez, Ana; Navas, Plácido CSIC ORCID; Sánchez Cuesta, Ana María; Santos-Ocaña, Carlos CSIC ORCID ; Fraga, Mario F. CSIC ORCID; Nieto, M. Ángela CSIC ORCID artículo de revisión
openAccessDesviatLR_DysregulatedmiRNAsAndTheirPathogenic.pdf.jpg18-Jul-2017Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemiaRivera-Barahona, Ana CSIC; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpgDec-2022FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsCospain, 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 Albertoartículo
openAccessDesviat RL Fuctional Caracterization.pdf.jpg8-Apr-2015Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and manRivera-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 ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg5-Nov-2020Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromePalencia-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 ORCIDartículo
openAccessIdentification_34_Rivera_postprint.pdf.jpgNov-2018Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associationsRivera-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 ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg6-Oct-2022Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaIturrate, 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 ORCIDartículo