Search Results - Inmaculada Rueda‐Arenas

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  1. 1
    Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

    Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor by Leila Cabral de Almeida Cardoso, Lara Rodríguez‐Laguna, M. Carmen Crespo, Elena Vallespín, María Palomares‐Bralo, Rubén Martín‐Arenas, Inmaculada Rueda‐Arenas, Paulo Antônio Silvestre de Faria, Purificación García‐Miguel, Pablo Lapunzina, Fernando Regla Vargas, Héctor N. Seuánez, Víctor Martínez‐Glez

    Published 2015
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  2. 2
    Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

    Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium by José A. Caparrós‐Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Mennat Mehrez, Eulalia Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda‐Arenas, Karen E. Heath, M. Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Published 2015
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  3. 3
    CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype by Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo, Sixto García‐Miñaúr, Fernando Santos‐Simarro, Noelia Agrá, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín‐Arenas, Ángela del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda‐Arenas, María Vanessa Pérez-Gómez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L. Ruiz‐Pérez, Julián Nevado, Pablo Lapunzina, Juan Carlos López‐Gutiérrez, Víctor Martínez‐Glez

    Published 2018
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  4. 4
    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome by Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina

    Published 2015
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