Blar i Faculty of Medicine på forfatter "Gloyn, Anna L."
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Metabolic Profiling in Maturity-Onset Diabetes of the Young (MODY) and Young Onset Type 2 Diabetes Fails to Detect Robust Urinary Biomarkers
Gloyn, Anna L.; Faber, Johan H.; Malmodin, Daniel; Thanabalasingham, Gaya; Lam, Francis; Ueland, Per Magne (Peer reviewed; Journal article, 2012-07-30)It is important to identify patients with Maturity-onset diabetes of the young (MODY) as a molecular diagnosis determines both treatment and prognosis. Genetic testing is currently expensive and many patients are therefore ... -
Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation
Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J.; Aukrust, Ingvild; Rundle, Jana K.; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; van der Lugt, Timme; Hassanali, Neelam; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I.; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L. (Journal article; Peer reviewed, 2020-10-01)Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), ...