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Browsing by Author "Campo Casanelles, Miguel del, 1966-"

Browsing by Author "Campo Casanelles, Miguel del, 1966-"

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  • Barrio, Cristina del; Campo Casanelles, Miguel del, 1966-; Pérez Jurado, Luis Alberto; Teulé, Alexandre; Iglesias, Sílvia; Salinas, Mònica; Blanco, Ignacio (Universidad Complutense de Madrid. Servicio de Publicaciones, 2017)
    A lo largo de la consulta de Asesoramiento Genético se hace un gran énfasis en la necesidad de comunicar la información del riesgo familiar y del estudio genético a los familiares. Además, los informes clínicos especifican ...
  • Cuscó Martí, Ivon, 1973-; Campo Casanelles, Miguel del, 1966-; Vilardell Nogales, Mireia; González, Eva; Gener, Blanca; Galán, Enrique; Toledo, Laura; Pérez Jurado, Luis Alberto (BioMed Central, 2008)
    Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual ...
  • Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Homs Raubert, Aïda, 1983-; Santoyo-Lopez, Javier; Rigau, Maria; Aznar Laín, Gemma; Campo Casanelles, Miguel del, 1966-; Gener, Blanca; Gabau, Elisabeth; Botella, María Pilar; Gutiérrez Arumi, Armand, 1980-; Antiñolo, Guillermo; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973- (BioMed Central, 2015)
    BACKGROUND: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited ...
  • 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 ...

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