Roar Fjær
Publikasjoner
2021
-
Fjær, Roar;
Marciniak, Katarzyna;
Sundnes, Olav;
Hjorthaug, Hanne;
Sheng, Ying;
Hammarström, Clara Louise.
(2021)
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Human Molecular Genetics
Vitenskapelig artikkel
2017
-
BJØRGO, KATHRINE;
Fjær, Roar;
Mørk, Hanne Håberg;
Ferdinandusse, Sacha;
Falkenberg, KD;
Waterham, Hans R..
(2017)
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Molecular Genetics and Metabolism
Vitenskapelig artikkel
2016
-
Moen, Marivi Nabong;
Fjær, Roar;
Hamdani, El Hassan;
Lærdahl, Jon Kristen;
Menchini, Robin Johansen;
Vigeland, Magnus Dehli.
(2016)
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
Brain
Vitenskapelig artikkel
-
Stamberger, Hannah;
Nikanorova, Marina;
Willemsen, Marjolein H.;
Accorsi, Patrizia;
Angriman, Marco;
Baier, Hartmut.
(2016)
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Neurology
Vitenskapelig oversiktsartikkel/review
2015
-
Fjær, Roar;
Brodtkorb, Eylert;
Øye, Ane-Marte;
Sheng, Ying;
Vigeland, Magnus Dehli;
Kvistad, Kjell Arne.
(2015)
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
European Journal of Medical Genetics
Vitenskapelig artikkel
-
Magnussen, Gry Irene;
Emilsen, Elisabeth;
Fleten, Karianne Giller;
Engesæter, Birgit Øvstebø;
Nahse-Kumpf, Viola;
Fjær, Roar.
(2015)
Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma.
BMC Cancer
Vitenskapelig artikkel
Tidsskriftspublikasjoner
-
Fjær, Roar;
Marciniak, Katarzyna;
Sundnes, Olav;
Hjorthaug, Hanne;
Sheng, Ying;
Hammarström, Clara Louise.
(2021)
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Human Molecular Genetics
Vitenskapelig artikkel
-
BJØRGO, KATHRINE;
Fjær, Roar;
Mørk, Hanne Håberg;
Ferdinandusse, Sacha;
Falkenberg, KD;
Waterham, Hans R..
(2017)
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Molecular Genetics and Metabolism
Vitenskapelig artikkel
-
Moen, Marivi Nabong;
Fjær, Roar;
Hamdani, El Hassan;
Lærdahl, Jon Kristen;
Menchini, Robin Johansen;
Vigeland, Magnus Dehli.
(2016)
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
Brain
Vitenskapelig artikkel
-
Stamberger, Hannah;
Nikanorova, Marina;
Willemsen, Marjolein H.;
Accorsi, Patrizia;
Angriman, Marco;
Baier, Hartmut.
(2016)
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Neurology
Vitenskapelig oversiktsartikkel/review
-
Fjær, Roar;
Brodtkorb, Eylert;
Øye, Ane-Marte;
Sheng, Ying;
Vigeland, Magnus Dehli;
Kvistad, Kjell Arne.
(2015)
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
European Journal of Medical Genetics
Vitenskapelig artikkel
-
Magnussen, Gry Irene;
Emilsen, Elisabeth;
Fleten, Karianne Giller;
Engesæter, Birgit Øvstebø;
Nahse-Kumpf, Viola;
Fjær, Roar.
(2015)
Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma.
BMC Cancer
Vitenskapelig artikkel