Sökning: "Niklas Dahl"
Visar resultat 1 - 5 av 17 avhandlingar innehållade orden Niklas Dahl.
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
Sammanfattning : .... LÄS MER
2. Temporal and co-varying clause combining in Austronesian languages : Semantics, morpho-syntax and distributional patterns
Sammanfattning : 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. LÄS MER
Sammanfattning : 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. LÄS MER
4. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization
Sammanfattning : 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. LÄS MER
Sammanfattning : 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. LÄS MER