Showing 1 - 19 results of 19 for search 'Paulino Gómez‐Puertas', query time: 0.06s
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Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners by Amanda M. Levy, Paulino Gomez-Puertas, Zeynep Tümer
Published 2022-04-01
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STAG2: Computational Analysis of Missense Variants Involved in Disease by David Ros-Pardo, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde
Published 2024-01-01
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Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome by Pedro A. Lazo, Juan L. García, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde, Cesar Arjona, Alvaro Villarroel, Rogelio González-Sarmiento, Carmen Fons
Published 2020-06-01
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ANISERP: a new serpin from the parasite Anisakis simplex by Elizabeth Valdivieso, Maria J. Perteguer, Carolina Hurtado, Pamela Campioli, Esperanza Rodríguez, Ana Saborido, Victoria Martínez-Sernández, Paulino Gómez-Puertas, Florencio M. Ubeira, Teresa Gárate
Published 2015-07-01
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Molecular Characterization of Tc964, A Novel Antigenic Protein from <i>Trypanosoma cruzi</i> by Elizabeth Ruiz-Márvez, César Augusto Ramírez, Eliana Rocío Rodríguez, Magda Mellisa Flórez, Gabriela Delgado, Fanny Guzmán, Paulino Gómez-Puertas, José María Requena, Concepción J. Puerta
Published 2020-03-01
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Modulating the RNA processing and decay by the exosome: altering Rrp44/Dis3 activity and end-product. by Filipa P Reis, Ana Barbas, A A Klauer-King, Borislava Tsanova, Daneen Schaeffer, Eduardo López-Viñas, Paulino Gómez-Puertas, Ambro van Hoof, Cecília M Arraiano
Published 2013-01-01
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Correction: Modulating the RNA Processing and Decay by the Exosome: Altering Rrp44/Dis3 Activity and End-Product. by Filipa P Reis, Ana Barbas, A A Klauer-King, Borislava Tsanova, Daneen Schaeffer, Eduardo López-Viñas, Paulino Gómez-Puertas, Ambro van Hoof, Cecília M Arraiano
Published 2015-01-01
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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy by Ana T. Marcos, Elena Martín‐Doncel, Patricia Morejón‐García, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, María Segura‐Puimedon, Lluis Armengol, José M. Navarro‐Pando, Pedro A. Lazo
Published 2020-05-01
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Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol by María Arnedo, Sebastián Menao, Beatriz Puisac, María E. Teresa-Rodrigo, María C. Gil-Rodríguez, Eduardo López-Viñas, Paulino Gómez-Puertas, Nuria Casals, César H. Casale, Fausto G. Hegardt, Juan Pié
Published 2012-10-01
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Two-step ATP-driven opening of cohesin head by Íñigo Marcos-Alcalde, Jesús I. Mendieta-Moreno, Beatriz Puisac, María Concepción Gil-Rodríguez, María Hernández-Marcos, Diego Soler-Polo, Feliciano J. Ramos, José Ortega, Juan Pié, Jesús Mendieta, Paulino Gómez-Puertas
Published 2017-06-01
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Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 by Ana Latorre‐Pellicer, Ángela Ascaso, Cristina Lucia‐Campos, Marta Gil‐Salvador, María Arnedo, Rebeca Antoñanzas, Ariadna Ayerza‐Casas, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Feliciano J. Ramos, Juan Pié, Beatriz Puisac
Published 2021-11-01
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Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches by María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, María Jesús Pablo, Paulino Gómez-Puertas, Feliciano J. Ramos, Gloria Bueno-Lozano, Juan Pié, Beatriz Puisac
Published 2022-08-01
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Developmental ORIgins of Healthy and Unhealthy AgeiNg: The Role of Maternal Obesity - Introduction to DORIAN by Patricia Iozzo, Megan Holmes, Mathias V. Schmidt, Francesca Cirulli, Maria Angela Guzzardi, Alessandra Berry, Georgia Balsevich, Maria Grazia Andreassi, Jan-Jaap Wesselink, Tiziana Liistro, Paulino Gómez-Puertas, Johan G. Eriksson, Jonathan Seckl
Published 2014-04-01
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Computational Modeling and Design of New Inhibitors of Carbapenemases: A Discussion from the EPIC Alliance Network by Elias Dahdouh, Lisa Allander, Linda Falgenhauer, Bogdan I. Iorga, Stefano Lorenzetti, Íñigo Marcos-Alcalde, Nathaniel I. Martin, Luis Martínez-Martínez, Jesús Mingorance, Thierry Naas, Joseph E. Rubin, Francesca Spyrakis, Thomas Tängdén, Paulino Gómez-Puertas
Published 2022-08-01
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A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange Syndrome by Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, María Arnedo, Beatriz Puisac, Neus Castells, Alberto Plaja, Anna Tenes, Ivon Cuscó, Laura Trujillano, Feliciano J. Ramos, Eduardo F. Tizzano, Paulino Gómez-Puertas, Juan Pié
Published 2022-08-01
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood by Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Published 2021-07-01
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