Sökning: "Alexandre Reymond"

Hittade 1 avhandling innehållade orden Alexandre Reymond.

1. 1. Sequence based analysis of neurodevelopmental disorders

   Författare :Jonatan Halvardson; Lars Feuk; Alexandre Reymond; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical Genetics; Medicinsk genetik;

   Sammanfattning : In this thesis the main focus is the use of methods and applications of next generation sequencing in order to study three of the most common neurodevelopmental disorders: intellectual disability, epilepsy and schizophrenia. A large fraction of the genes in our genome produce several distinct transcript isoforms through the process of splicing and there is an increasing amount of evidence pinpointing mutations affecting splicing as a mechanism of disease. LÄS MER