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Browsing by Author "Palacios Verdú, María Gabriela, 1983-"

Browsing by Author "Palacios Verdú, María Gabriela, 1983-"

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  • Palacios Verdú, María Gabriela, 1983- (Universitat Pompeu Fabra, 2015-10-19)
    Williams-Beuren syndrome is a neurocognitive disorder with multisystemic manifestations of variable expressivity caused by a 1.55-1.83 Mb at chromosomal band 7q11.23. In this thesis project we have characterized the 7q11.23 ...
  • Codina i Solà, Marta, 1988-; Costa-Roger, Mar; Pérez García, Débora, 1985-; Flores Peirats, Raquel; Palacios Verdú, María Gabriela, 1983-; Cuscó Martí, Ivon, 1973-; Pérez Jurado, Luis Alberto (BMJ Publishing Group, 2019)
    Background: The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). ...
  • Palacios Verdú, María Gabriela, 1983-; Segura Puimedon, Maria, 1985-; Borralleras Fumaña, Cristina, 1988-; Flores, Raquel; Campo Casanelles, Miguel del, 1966-; Campuzano Uceda, María Victoria; Pérez Jurado, Luis Alberto (BMJ, 2015)
    BACKGROUND: Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83 Mb deletion at 7q11.23 including 26-28 genes. Reported endocrine and metabolic ...
  • Palacios Verdú, María Gabriela, 1983-; Pérez Jurado, Luis Alberto (Ergon, 2014)
    Las dos últimas décadas han sido testigo de un desarrollo importante de nuevas tecnologías moleculares y métodos analíticos que permiten estudiar casi toda la información genética de un individuo a un precio cada vez más ...