Mostrando resultados 2 a 11 de 11
< Anterior
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |  | 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 |
| 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 |
| openAccess |  | 4-dic-2019 | More than one HMG-CoA lyase: the classical mitochondrial enzyme plus the peroxisomal and the cytosolic ones | Arnedo, María; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Gil-Salvador, Marta; Antoñanzas-Peréz, Rebeca; Gómez-Puertas, Paulino CSIC ORCID ; Bueno-Lozano, Gloria; Puisac, Beatriz; Pié, Juan | artículo |
| openAccess |  | 23-feb-2017 | mRNA quantification of NIPBL isoforms A and B in adult and fetal human tissues, and a potentially pathological variant affecting only isoform a in two patients with Cornelia de Lange syndrome | Puisac, Beatriz; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juan | artículo |
| openAccess |  | 23-feb-2017 | mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome | Puisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Hernández-Marcos, María; Baquero-Montoya, Carolina; Gil-Rodríguez, María Concepción; Visnes, Torkild; Bot, Christopher; Gómez-Puertas, Paulino CSIC ORCID ; Kaiser, Frank J.; Ramos, Feliciano J.; Ström, Lena; Pié, Juan | artículo |
| closedAccess |  | 2013 | New case of mitochondrial HMG-CoA synthase deficiency: Functional analysis of eight mutations | Ramos, Mónica; Menao, Sebastián; Arnedo, María; Puisac, Beatriz; Gil-Rodríguez, María Concepción; Hernández-Marcos, María; Pierre, Germaine; Ramaswami, Uma; Baquero-Montoya, Carolina; Bueno, Gloria; Casale, César; Hegardt, Fausto G.; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juan | artículo |
| openAccess |  | sep-2014 | Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation | Baquero-Montoya, Carolina; Gil-Rodríguez, María-Concepción; Hernández-Marcos, María; Teresa-Rodrigo, María-Esperanza; Vicente-Gabas, Alicia; Bernal, María-Luisa; Casale, Cesar-Horacio; Bueno-Lozano, Gloria; Bueno-Martínez, Inés; Queralt, Ethel CSIC ORCID CVN ; Villa, Olaya; Hernando-Davalillo, Cristina; Armengol, Lluís; Gómez-Puertas, Paulino CSIC ORCID ; Puisac, Beatriz; Selicorni, Angelo; Ramos, Feliciano J.; Pié, Juan | artículo |
