Search for dissertations about: "Medical Genetics"
Showing result 16 - 20 of 654 swedish dissertations containing the words Medical Genetics.
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16. Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies
Abstract : Inherited eye disorders (IED) are groups of genetically and clinically heterogenous conditions affecting different tissues in the eye. IED are most often progressive with reduced vision or legal blindness as outcome. READ MORE
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17. Targeted Long-read Sequencing : Development and Applications in Medical Genetics
Abstract : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. READ MORE
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18. The genetics of schizophrenia : sex, drugs, and cognition
Abstract : Cognitive impairment constitutes an important predictor of general functional outcomes in schizophrenia. Polygenic risk for schizophrenia has been linked to cognitive ability as well as brain activation during cognitive processing. READ MORE
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19. Genotyping RNA and DNA using padlock probes
Abstract : Novel techniques are needed to investigate the genetic variation revealed in the first draft of the human genome sequence. Padlock probes are recently developed reagents, suitable for detecting single-nucleotide variations of DNA and RNA in situ or in solution. READ MORE
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20. Nuclear Organization of Gene Expression in Adenovirus Infected Cells
Abstract : Adenovirus infected cells provide a good model system for studying nuclear organization during RNA production and transport. This thesis is focused on the dynamic organization of splicing factors during the late phase of Adenovirus infection in HeLa cells, the nuclear localization of viral RNA, and the pathway used for viral RNA transport to the cytoplasm. READ MORE