Sökning: "Anna-maja Nyström"

Hittade 2 avhandlingar innehållade orden Anna-maja Nyström.

  1. 1. Mapping and characterisation of genes in human genetic disorders associated with mental retardation

    Författare :Anna-Maja Nyström; Uppsala universitet.; [2006]
    Nyckelord :genetik;

    Sammanfattning : .... LÄS MER

  2. 2. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Anna-Maja Nyström; Uppsala universitet.; [2009]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER