Works matching AU Galán, Enrique

Results: 29
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    Razones de la psicoterapia.

    Published in:
    Medicina Naturista, 2019, v. 13, n. 1, p. 8
    By:
    • Galán Santamaría, Enrique
    Publication type:
    Article
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    Identification of copy‐number variants in patients with overgrowth disorders.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596
    By:
    • Parra, Alejandro;
    • Tenorio‐Castano, Jair;
    • Nevado, Julián;
    • Cazalla, Mario;
    • Miranda‐Alcaraz, Lucía;
    • Gallego‐Zazo, Natalia;
    • Silván, Cristina;
    • Arias, Pedro;
    • Pozo‐Román, Jesús;
    • Ballesta‐Martínez, María Juliana;
    • Guillén‐Navarro, Encarna;
    • Arroyo, Ignacio;
    • Lotersztein, Vanesa;
    • Cosentino, Viviana;
    • González‐Meneses, Antonio;
    • Galán, Enrique;
    • Rosell, Jordi;
    • Ramos, Feliciano;
    • Plasencia, Antonio;
    • Rosa, Alberto L.
    Publication type:
    Article
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    Bacteriemia por Kluyvera ascorb ata en un paciente adulto.

    Published in:
    Revista Española de Quimioterapia, 2013, v. 26, n. 3, p. 226
    By:
    • López-Larramona, Germán;
    • Gómez-de-Oña, Ernesto;
    • Maestre-Muñiz, Modesto M.;
    • Ruiz-Chicote, Ana M.;
    • Galán-Dorado, Enrique;
    • González-Delgado, Laura
    Publication type:
    Article
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    Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

    Published in:
    Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738
    By:
    • Tenorio-Castaño, Jair;
    • Morte, Beatriz;
    • Nevado, Julián;
    • Martinez-Glez, Víctor;
    • Santos-Simarro, Fernando;
    • García-Miñaúr, Sixto;
    • Palomares-Bralo, María;
    • Pacio-Míguez, Marta;
    • Gómez, Beatriz;
    • Arias, Pedro;
    • Alcochea, Alba;
    • Carrión, Juan;
    • Arias, Patricia;
    • Almoguera, Berta;
    • López-Grondona, Fermina;
    • Lorda-Sanchez, Isabel;
    • Galán-Gómez, Enrique;
    • Valenzuela, Irene;
    • Méndez Perez, María Pilar;
    • Cuscó, Ivón
    Publication type:
    Article
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    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.652454
    By:
    • Nevado, Julián;
    • García-Miñaúr, Sixto;
    • Palomares-Bralo, María;
    • Vallespín, Elena;
    • Guillén-Navarro, Encarna;
    • Rosell, Jordi;
    • Bel-Fenellós, Cristina;
    • Ángeles Mori, María;
    • Milá, Montserrat;
    • del Campo, Miguel;
    • Barrúz, Pilar;
    • Santos-Simarro, Fernando;
    • Obregón, Gabriela;
    • Orellana, Carmen;
    • Pachajoa, Harry;
    • Antonio Tenorio, Jair;
    • Galán, Enrique;
    • Cigudosa, Juan C.;
    • Moresco, Angélica;
    • Saleme, César
    Publication type:
    Article
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    Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

    Published in:
    Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1
    By:
    • Alías, Laura;
    • Bernal, Sara;
    • Fuentes-Prior, Pablo;
    • Barceló, María Jesus;
    • Also, Eva;
    • Martínez-Hernández, Rebeca;
    • Rodríguez-Alvarez, Francisco J.;
    • Martín, Yolanda;
    • Aller, Elena;
    • Grau, Elena;
    • Peciña, Ana;
    • Antiñolo, Guillermo;
    • Galán, Enrique;
    • Rosa, Alberto L.;
    • Fernández-Burriel, Miguel;
    • Borrego, Salud;
    • Millán, José M.;
    • Hernández-Chico, Concepción;
    • Baiget, Montserrat;
    • Tizzano, Eduardo F.
    Publication type:
    Article
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    Waardenburg syndrome type 4: Report of two new cases caused by SOX 10 mutations in Spain.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 542, doi. 10.1002/ajmg.a.36302
    By:
    • Fernández, Raquel M.;
    • Núñez‐Ramos, Raquel;
    • Enguix‐Riego, Mª Valle;
    • Román‐Rodríguez, Francisco José;
    • Galán‐Gómez, Enrique;
    • Blesa‐Sánchez, Emilio;
    • Antiñolo, Guillermo;
    • Núñez‐Núñez, Ramón;
    • Borrego, Salud
    Publication type:
    Article
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    Distinct mechanism of formation of the 48, XXYY karyotype.

    Published in:
    Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-25
    By:
    • Balsera, Aránzazu Margallo;
    • Estévez, Manuela Núñez;
    • Beltrán, Emilia Balboa;
    • Sánchez-Giralt, Plácida;
    • García, Luz González;
    • Moreno, Trinidad Herrera;
    • De Cáceres, Mayte García;
    • Carbonell Pérez, José M.;
    • Gómez, Enrique Galán;
    • Rodríguez-López, Raquel
    Publication type:
    Article