Search for dissertations about: "Mosaicism"

Showing result 11 - 15 of 20 swedish dissertations containing the word Mosaicism.

  2. 11. Resolving deep nodes of eukaryote phylogeny

    Author : Caesar Al Jewari; Sandra L Baldauf; Fabien Burki; Antonis Rokas; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Eukaryote Tree of Life; Excavata; phylogenetics; phylogenomics; Mitochondria; Biology with specialization in Systematics; Biologi med inriktning mot systematik;

    Abstract : My thesis aims to solve deep nodes in the eukaryote tree of life (eToL), by developing new data sets and new approaches to analysing them. In paper I, I described a dataset of 76 universal eukaryotic proteins of bacterial descent (euBacs), in order to test the relations among the three main divisions of mitochondriate eukaryotes (Amorphea, Diaphretickes and Discoba). READ MORE

  4. 12. Multiple sclerosis : from genetic variants to biomarkers

    Author : Sahl Khalid Bedri; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Multiple sclerosis (MS) is a common chronic autoimmune and neurodegenerative disease of the central nervous system (CNS). MS is a debilitating disease that affects young adults, especially females. Why we develop MS? Is thought to be a consequence of our genes and the environment. READ MORE

  5. 13. Advanced Genomic Tools in Translational Research of Neurodevelopmental Disorders

    Author : Josefin Johansson; Maria Wilbe; Joris Vermeesch; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; neurodevelopmental disorders; translational research; advanced genomic technologies; Medicinsk genetik; Medical Genetics;

    Abstract : Neurodevelopmental disorders (NDDs) affect >4.7% of individuals world-wide. Most cases are expected to have an underlying genetic cause. However, only 36–40% of those affected get a genetic diagnosis through exome sequencing. READ MORE

  6. 14. Turner karyotype and childbirth

    Author : Anna Hagman; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Turner syndrome; obstetric and neonatal outcome; Turner karyotype; pregnancy; maternal characteristics; neonatal chracterisitics;

    Abstract : Turner karyotype and childbirth Anna Hagman, Department of Obstetrics and Gynaecology, Institute of Clinical Sciences, the Sahlgrenska Academy, University of Gothenburg, Sweden, 2013. anna.c.hagman@vgregion. READ MORE

  7. 15. Genetic studies of susceptibility to inflammation, autoimmunity, and hematological malignancy

    Author : Bianca Tesi; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The immune system represents the body’s defense against infectious organisms. Inborn defects of the immune system, called primary immunodeficiencies (PIDs), are a heterogeneous group of Mendelian disorders. Clinically, PIDs can cause isolated to broad susceptibility to pathogens, severe hyperinflammation, autoimmunity, allergy, and cancer. READ MORE