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Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development
Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
Libertinage et folie dans le roman du 18e siècle
Examine la littérature libertine d'avant la Révolution, celle-ci offrant une perspective sur la folie qui éclaire la façon dont le 18e siècle voyait la psyché humaine, et qui étonne parfois par sa modernité.
Diario Oficial
Prefeitura do distrito.
A Modern Guide to the Economics of Happiness
Exploring the modern approach to the economics of happiness, which came about with the Easterlin Paradox, this book analyses and assesses the idea that as a country gets richer the happiness of its citizens remains the same. The book moves through three distinct pillars of study in the field: first analysing the historical and philosophical foundations of the debate; then the methodological and measurements issues and their political implications; and finally empirical applications and discussion about what determines a happy life.
