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; []
   Nyckelord :genetik;

   Sammanfattning : .... LÄS MER

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

   Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
   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; Molecular medicine genetics and pathology ; 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