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2018
1 Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza; Hollizeck, Sebastian; Magg, Thomas; Lehle, Anna S.; Walz, Christoph; Borggraefe, Ingo; Hauck, Fabian; Bufler, Philip; Conca, Raffaele; Wall, Sarah M.; Schumacher, Eva Margrethe; Misceo, Doriana; Frengen, Eirik; Bentsen, Beint Sigmund; Uhlig, Holm H.; Hopfner, Karl-Peter; Muise, Aleixo M.; Snapper, Scott B.; Strømme, Petter; Klein, Christoph.
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics 2018 ;Volum 50.(3) s. 344-348
UiO OUS Untitled
 
2 Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette; Holmgren, Asbjørn; Gurcan, Ebrar; Meima, Marcel E.; Peeters, Robin P.; Visser, W. Edward; Johansson, Linda Høneren; Babovic, Almira; Zetterberg, Henrik; Heuer, Heike; Frengen, Eirik; Misceo, Doriana; Visser, Theo J..
Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid 2018 ;Volum 28.(11) s. 1406-1415
OUS UiO Untitled
 
3 Yaddehi Gamage, Thilini Hansamali Gamage; Gunnes, Gjermund; Lee, Robert Hugh; Louch, William Edward; Holmgren, Asbjørn; Bruton, Joseph D.; Lengle, Emma; Kolstad, Terje R Selnes; Revold, Tobias; Amundsen, Silja Svanstrøm; Dalen, Knut Tomas; Holme, Pål Andre; Tjønnfjord, Geir Erland; Christensen, Geir Arve; Westerblad, Håkan; Klungland, Arne; Bergmeier, Wolfgang; Misceo, Doriana; Frengen, Eirik.
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. Cell Calcium 2018 ;Volum 76. s. 87-100
UiO OUS NMBU Untitled