Search for dissertations about: "genome-wide scan"
Showing result 31 - 32 of 32 swedish dissertations containing the words genome-wide scan.
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31. Clinical and genetic studies of three inherited skeletal disorders
Abstract : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. READ MORE
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32. Welander distal myopathy : clinical and genetic studies
Abstract : Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal distribution of muscular weakness. Most cases originate from the middle parts of Sweden. READ MORE