Browsing Articles (Departament de Ciències Experimentals i de la Salut) by Subject "Malalties congènites"

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Browsing Articles (Departament de Ciències Experimentals i de la Salut) by Subject "Malalties congènites"

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  • Cuscó, Ivon; Campo, Miguel del; 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 ...
  • Furney, Simon J.; Albà Soler, Mar; López Bigas, Núria (BioMed Central, 2006)
    Background: Global analyses of human disease genes by computational methods have yielded important advances in the understanding of human diseases. Generally these studies have treated the group of disease genes uniformly, ...
  • Lucena, Jaume; Pezzi, Susana; Aso Pérez, Ester; Valero, Maria C.; Carreiro, Candelas; Dubus, Pierre; Sampaio, Adriana; Segura, Maria; Barthelemy, Isabel; Zindel, Marc Y.; Sousa, Nuno; Barbero, José L.; Maldonado, Rafael, 1961-; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (BioMed Central, 2010)
    Background: GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developmental ...
  • Castillejo, Adela; Guarinos, Carla; Martínez Canto, Ana; Barbera, Victor Manuel; Egoavil, Cecilia; Castillejo, Maria Isabel; Pérez Carbonell, Lucía; Sánchez Heras, Ana Beatriz; Segura, Ángel; Ochoa, Enrique; Lazaro, Rafael; Ruiz Ponte, Clara; Bujanda, Luis; Andreu, Montserrat; Castells, Antoni; Carracedo, Ángel; Llor, Xavier; Clofent, Juan; Alenda, Cristina; Paya, Artemio; Jover, Rodrigo; Soto, José Luis (BioMed Central, 2011)
    Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS ...

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