Showing 1 - 6 results of 6 for search 'Marta Gil‐Salvador', query time: 0.04s Refine Results
  1. 1
    Heart Disease Characterization and Myocardial Strain Analysis in Patients with <i>PACS1</i> Neurodevelopmental Disorder

    Heart Disease Characterization and Myocardial Strain Analysis in Patients with <i>PACS1</i> Neurodevelopmental Disorder by Ana Latorre-Pellicer, Laura Trujillano, Julia del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, María Arnedo, Beatriz Puisac, Feliciano J. Ramos, Ariadna Ayerza-Casas, Juan Pié

    Published 2023-06-01
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  2. 2
    Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

    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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  3. 3
    Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

    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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  4. 4
    Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

    Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome by Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares, Carmen Palma Milla, Beatriz Puisac, Antonio Musio, Feliciano J. Ramos, Juan Pié

    Published 2022-09-01
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  5. 5
    A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange Syndrome

    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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  6. 6
    Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

    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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