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Showing result 1 - 5 of 17 swedish dissertations matching the above criteria.
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1. Gene mapping and molecular characterisation of inherited diseases in man : with special reference to X linked retinoschisis, the fragile X syndrome, and the Norrbottnian type of Gaucher disease type III
Abstract : .... READ MORE
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2. Temporal and co-varying clause combining in Austronesian languages : Semantics, morpho-syntax and distributional patterns
Abstract : This study investigates combined clause constructions for ten distinct semantic relations in a cross-section of Austronesian languages. The relations are of a temporal or co-varying nature, the former commonly expressed in English by such markers as when, then, until, etc. and the latter by if, so, because, etc. READ MORE
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3. Ribosomal Proteins in Diamond-Blackfan Anemia : Insights into Failure of Ribosome Function
Abstract : Diamond-Blackfan anemia (DBA) is a severe congenital anemia characterized by a defect in red blood cell production. The disease is associated with growth retardation, malformations, a predisposition for malignant disease and heterozygous mutations in either of the ribosomal protein (RP) genes RPS7, RPS17, RPS19, RPS24, RPL5, RPL11 and RPL35a. READ MORE
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4. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization
Abstract : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. READ MORE
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5. Genetic and Molecular Studies of Two Hereditary Skin Disorders
Abstract : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. READ MORE