Ara mostrant els elements 11-17 de 17
Gutiérrez Arumi, Armand (Data de defensa: 2016-01-15)
Significant advances were performed in mapping and characterizing different types of structural variation in the human genome such as point mutations, insertions, deletions, etc. Nevertheless, there is ...
Vilardell Nogales, Mireia (Data de defensa: 2008-07-01)
El descubrimiento de las duplicaciones segmentarias (DS) o Low Copy Repeats (LCRs) ha permitido definir nuevos mecanismos evolutivos mediados, en gran parte, por duplicación génica. Las DS son responsables ...
Pérez García, Débora (Data 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 ...
López Sánchez, Marcos (Data de defensa: 2018-02-05)
Neurodevelopmental disorders are a group of conditions with impairments of the personal, social, academic or occupational behaviour. Autism spectrum disorder is a neurodevelopmental disorder with a high ...
Homs Raubert, Aïda (Data de defensa: 2015-09-15)
The aetiology of autism spectrum disorders (ASD), a group of neurodevelopmental conditions with early onset, characterized by social and communication impairment and restricted interests, is unknown in ...
Codina i Solà, Marta (Data de defensa: 2016-07-14)
The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, ...
Palacios Verdú, María Gabriela (Data 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 ...
Campuzano Uceda, María Victoria (2)