Blar i Fakultet for medisin og helsevitenskap (MH) på tidsskrift "Human Genetics"

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    • Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels 

      Parikh, Hemang; Wang, Zhaoming; Pettigrew, Kerry A.; Jia, Jinping; Daugherty, Sarah; Yeager, Meredith; Jacobs, Kevin B.; Hutchinson, Amy; Burdett, Laura; Cullen, Michael; Qi, Liqun; Boland, Joseph; Collins, Irene; Albert, Thomas J.; Vatten, Lars J.; Hveem, Kristian; Njølstad, Inger; Cancel-Tassin, Geraldine; Cussenot, Olivier; Valeri, Antoine; Virtamo, Jarmo; Thun, Michael J.; Feigelson, Heather Spencer; Diver, W. Ryan; Chatterjee, Nilanjan; Thomas, Gilles; Albanes, Demetrius; Chanock, Stephen J.; Hunter, David J.; Hoover, Robert; Hayes, Richard B.; Berndt, Sonja I.; Sampson, Joshua; Amundadottir, Laufey (Journal article; Peer reviewed, 2011)

    • Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant 

      Maddirevula, Sateesh; Alameer, Seham; Ewida, Nour; Sousa, Mirta; Bjørås, Magnar; Vågbø, Cathrine Broberg; Alkuraya, Fowzan S. (Peer reviewed; Journal article, 2021)
      ALKBH8 is a methyltransferase that modifies tRNAs by methylating the anticodon wobble uridine residue. The syndrome of ALKBH8-related intellectual developmental disability (MRT71) has thus far been reported solely in the ...