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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess | | sep-2018 | 2018 CIC Samples KCNQ2 exon 7 partial duplication fastq files | Lazo, Pedro A. CSIC ORCID ; García-Hernández, Juan L.; Gómez-Puertas, Paulino CSIC ORCID ; Marcos-Alcalde, Íñigo CSIC ORCID; Arjona, César; Villarroel, Álvaro CSIC ORCID; González-Sarmiento, Rogelio CSIC ORCID ; Fons, Carmen | dataset |
| openAccess |  | 1-jun-2017 | A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases | Martínez Buey, Rubén CSIC ORCID; Fernández-Justel, David; Marcos-Alcalde, Íñigo CSIC ORCID; Winter, Graeme; Gómez-Puertas, Paulino CSIC ORCID ; Pereda, José M. de CSIC ORCID ; Revuelta Doval, José Luis CSIC ORCID CVN | artículo |
| openAccess | | 2015 | A practical quantum mechanics molecular mechanics method for the dynamical study of reactions in biomolecules (Conference Paper) | Mendieta-Moreno, Jesús I.; Marcos-Alcalde, Íñigo CSIC ORCID; Trabada, D. G.; Gómez-Puertas, Paulino CSIC ORCID ; Ortega, José; Mendieta, Jesús CSIC ORCID | artículo |
| closedAccess |  | 2013 | Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency | Puisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Arnedo, María; Gil-Rodríguez, María Concepción; Pérez-Cerdá, Celia; Ribes, Antonia; Pié, Ángeles; Bueno, Gloria; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juan | artículo |
| closedAccess | | 2001 | Antigenic and immunogenic properties of a chimera of two immunodominant African swine fever virus proteins | Gonzalez Barderas, María; Rodríguez, Fernando; Gómez-Puertas, Paulino CSIC ORCID ; Avilés, Manuel; Beitia, F.; Alonso Martí, Covadonga; Escribano, J. M. | artículo |
| closedAccess | | 1997 | Blocking antibodies inhibit complete African swine fever virus neutralization | Gómez-Puertas, Paulino CSIC ORCID ; Escribano, J. M. | artículo |
| closedAccess |  | 2012 | Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol | Arnedo, María; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juan | artículo |
| closedAccess |  | 2012 | Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway | Puisac, Beatriz; Wesseling, J.; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juan | artículo |
| openAccess |  | 2021 | Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood | Latorre-Pellicer, Ana; Gil-Salvador, Marta; Parenti, Ilaria; Lucia-Campos, Cristina; Trujillano, Laura; Marcos-Alcalde, Íñigo CSIC ORCID; Arnedo, María; Ascaso, Ángela; Ayerza-Casas, Ariadna; Antoñanzas-Peréz, Rebeca; Gervasini, Cristina; Piccione, Maria; Mariani, Milena; Weber, Axel; Kanber, Deniz; Kuechler, Alma; Munteanu, Martin; Khuller, katharina; Bueno-Lozano, Gloria; Puisac, Beatriz; Gómez-Puertas, Paulino CSIC ORCID ; Selicorni, Angelo; Kaiser, Frank J.; Ramos, Feliciano J.; Pié, Juan | artículo |
| openAccess |  | 28-ene-2015 | De novo heterozygous mutations in SMC3 cause a range of cornelia de lange syndrome-overlapping phenotypes | Gil-Rodríguez, María Concepción; Marcos-Alcalde, Íñigo CSIC ORCID; Gómez-Puertas, Paulino CSIC ORCID ; Queralt, Ethel CSIC ORCID CVN | artículo |
| openAccess |  | 19-mar-2020 | Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 | Krabbe, Lianne C.; Marcos-Alcalde, Íñigo CSIC ORCID; Assafin, Melissa; Balasubramanian, Meena; Andersen, Janne B.; Bisgaard, Anne‑Marie; Fitzpatrick, David R.; Gudmundsson, Sanna; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martínez, Francisco; Mckee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Rosenfeld Mokry, Jill A.; Scarano, Emanuela; Shinawi, Marwan; Gómez-Puertas, Paulino CSIC ORCID ; Tümer, Zeynep; Hennekam, Raoul C. | artículo |
| openAccess |  | 2023 | Distinct GSDMB protein isoforms and protease cleavage processes differentially control pyroptotic cell death and mitochondrial damage in cancer cells | Oltra, Sara S. CSIC; Colomo, Sara; Sin, Laura; Pérez-López, María; Lázaro, Sara; Molina-Crespo, Ángela; Choi, Kyoung-Han; Ros-Pardo, David; Martínez, Lidia; Morales, Saleta CSIC; González-Paramos, Cristina; Orantes, Alba; Soriano, Mario; Hernández, Alberto; Lluch, Ana; Rojo, Federico; Albanell, Joan; Gómez-Puertas, Paulino CSIC ORCID ; Ko, Jae-Kyun; Sarrió, David CSIC ORCID; Moreno-Bueno, Gema CSIC ORCID | artículo |
| closedAccess |  | 6-sep-2022 | Dysfunctional heterozygous VRK1-L200P/R387H variants impair DNA damage response in a juvenile-onset neuromotor disease | Campos Díaz, Aurora; Morejón-García, Patricia CSIC ORCID; Ros Pardo, David; Marcos-Alcalde, Íñigo CSIC ORCID; Gómez Puertas, Paulino ; Lazo, Pedro A. CSIC ORCID | póster de congreso |
| openAccess |  | oct-2021 | Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia | Morejón-García, Patricia CSIC ORCID; Keren, Boris; Marcos-Alcalde, Íñigo CSIC ORCID; Gómez-Puertas, Paulino CSIC ORCID ; Mochel, Fanny; Lazo, Pedro A. CSIC ORCID | artículo |
| openAccess |  | 4-feb-2020 | Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes | Latorre-Pellicer, Ana; Ascaso, Angela; Trujillano, Laura; Gil-Salvador, Marta; Arnedo, Marta; Lucia-Campos, Cristina; Antoñanzas-Peréz, Rebeca; Marcos-Alcalde, Íñigo CSIC ORCID; Bueno-Lozano, Gloria; Musio, Antonio; Puisac, Beatriz; Puisac, Beatriz; Ramos, Feliciano J.; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juan | artículo |
| closedAccess | | 2003 | Expression of porcine CD163 on monocytes/macrophages correlates with permissiveness to African swine fever infection | Sánchez-Torres, C.; Gómez-Puertas, Paulino CSIC ORCID ; Gómez del Moral, M.; Alonso, Frank; Escribano, J. M.; Ezquerra Martínez, Ángel; Domínguez, Javier | artículo |
| openAccess |  | dic-2012 | Genome sequence of OXA-48 carbapenemase-producing Klebsiella pneumoniae KpO3210 | Wesselink, Jan-Jaap; Gómez-Puertas, Paulino CSIC ORCID ; Mingorance, Jesús CSIC ORCID | artículo |
| closedAccess | | 1997 | High level expression of the major antigenic African swine fever virus proteins p54 and p30 in baculovirus and their potential use as diagnostic reagents | Oviedo, J. M.; Rodríguez, Fernando; Gómez-Puertas, Paulino CSIC ORCID ; Brun Torres, Alejandro; Gómez, Nuria; Alonso Martí, Covadonga; Escribano, J. M. | artículo |
| openAccess |  | 28-mar-2018 | Human mitochondrial HMG-CoA synthase deficiency: Role of enzyme dimerization surface and characterization of three new patients | Puisac, Beatriz; Marcos-Alcalde, Íñigo CSIC ORCID; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juan | artículo |
| closedAccess | | 1995 | Improvement of African swine fever virus neutralization assay using recombinant viruses expressing chromogenic marker genes | Gómez-Puertas, Paulino CSIC ORCID ; Rodríguez, Fernando; Ortega, Ana; Oviedo, J. M.; Alonso Martí, Covadonga; Escribano, J. M. | artículo |
