Hasil Pencarian - Ángela Ascaso

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  1. 1
    Cornelia de Lange Spectrum

    Cornelia de Lange Spectrum oleh Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos

    Diterbitkan 2024-05-01
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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 oleh 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

    Diterbitkan 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 oleh 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

    Diterbitkan 2022-08-01
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  4. 4
    Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome

    Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome oleh Ángel Matute-Llorente, Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, Elena Llorente, Juan José Puente-Lanzarote, Ariadna Ayerza-Casas, María Arnedo, Luis A. Moreno, Feliciano Ramos, Juan Pié, José A. Casajus, Gloria Bueno-Lozano

    Diterbitkan 2021-01-01
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  5. 5
    Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

    Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome oleh Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano

    Diterbitkan 2024-06-01
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  6. 6
    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes oleh Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, Iñigo Marcos-Alcalde, Ilaria Parenti, Gloria Bueno-Lozano, Antonio Musio, Beatriz Puisac, Frank J. Kaiser, Feliciano J. Ramos, Paulino Gómez-Puertas, Juan Pié

    Diterbitkan 2020-02-01
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  7. 7
    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 oleh 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

    Diterbitkan 2021-07-01
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