Mostrando ítems 1-5 de 5
Segura Puimedon, Maria (Fecha de defensa: 2012-11-20)
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by the common deletion of 26-28 contiguous genes in the 7q11.23 region, which poses difficulties to the establishment of ...
Antonell Boixader, Anna (Fecha de defensa: 2006-04-20)
En aquest treball es presenta l'evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23, implicada en la Síndrome de Williams-Beuren (SWB). S'ha ...
Borralleras Fumaña, Cristina (Fecha de defensa: 2016-07-15)
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder caused by a heterozygous deletion of 26-28 contiguous genes in the 7q11.23 region. So far, a great deal of attention has been focused ...
Pérez García, Débora (Fecha de defensa: 2015-11-16)
Williams-Beuren syndrome is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes in 7q11.23. Despite the great advances on the knowledge of the clinical phenotype and the ...
Palacios Verdú, María Gabriela (Fecha de defensa: 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 ...