Sökning: "Niklas Dahl"

Visar resultat 1 - 5 av 17 avhandlingar innehållade orden Niklas Dahl.

  1. 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

    Författare :Niklas Dahl; Uppsala universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : .... LÄS MER

  2. 2. Temporal and co-varying clause combining in Austronesian languages : Semantics, morpho-syntax and distributional patterns

    Författare :Niklas Jonsson; Masja Koptjevskaja Tamm; Östen Dahl; Isabelle Bril; Stockholms universitet; []
    Nyckelord :HUMANITIES; HUMANIORA; HUMANIORA; HUMANITIES; Austronesian; clause combining; clause linkage; interclausal relations; Austronesiska; satsrelationer; Linguistics; lingvistik;

    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

  3. 3. Ribosomal Proteins in Diamond-Blackfan Anemia : Insights into Failure of Ribosome Function

    Författare :Jitendra Badhai; Niklas Dahl; Anthony Wright; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diamond-Blackfan anemia; RPS19; Ribosomal proteins; Haploinsufficiency; cell cycle; Apoptosis; Erythropoiesis; Medical genetics; Medicinsk genetik; Clinical Genetics; klinisk genetik;

    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. 4. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

    Författare :Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

    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

  5. 5. Genetic and Molecular Studies of Two Hereditary Skin Disorders

    Författare :Johanna Dahlqvist; Niklas Dahl; Anders Vahlquist; Juha Kere; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Monogenic disorder; autosomal recessive congenital ichthyosis; KLICK syndrome; Ichthyin; POMP; proteasome; epidermal differentiation; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

    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