Browsing Publikasjoner fra Cristin - St. Olavs hospital by Journals "Human Molecular Genetics"
Now showing items 1-2 of 2
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A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
(Peer reviewed; Journal article, 2021)Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The ... -
Within family Mendelian randomization studies
(Peer reviewed; Journal article, 2019)Mendelian randomization (MR) is increasingly used to make causal inferences in a wide range of fields, from drug development to etiologic studies. Causal inference in MR is possible because of the process of genetic ...