Now showing items 1-4 of 4

  • Makrythanasis, Periklis; Maroofian, Reza; Stray-Pedersen, Asbjørg; Musaev, Damir; Zaki, Maha S.; Mahmoud, Iman G.; Selim, Laila; Elbadawy, Amera; Jhangiani, Shalini N.; Akdemir, Zeynep H. Coban; Gambin, Tomasz; Sorte, Hanne Sørmo; Heiberg, Arvid; McEvoy-Venneri, Jennifer; James, Kiely N.; Stanley, Valentina; Belandres, Denice; Guipponi, Michel; Santoni, Federico A.; Ahangari, Najmeh; Tara, Fatemeh; Doosti, Mohammad; Iwaszkiewicz, Justyna; Zoete, Vincent; Backe, Paul Hoff; Hamamy, Hanan; Gleeson, Joseph G.; Lupski, James R.; Karimiani, Ehsan Ghayoor; Antonarakis, Stylianos E. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals ...
  • Bakke, Kristin Andersen; Howlin, Patricia; Retterstøl, Lars; Kanavin, Øivind J.; Heiberg, Arvid; Nærland, Terje (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic ...
  • Fjermestad, Krister; Nyhus, Livø; Kanavin, Øivind J.; Heiberg, Arvid; Hoxmark, Lise Beate (Journal article / Tidsskriftartikkel / SubmittedVersion, 2018)
    Abstract Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological ...
  • Johannessen, Tor Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Høyland, Anne Lise; Strohmaier, Jana; Heiberg, Arvid; Rietschel, Marcella; Djurovic, Srdjan; Andreassen, Ole Andreas (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
    Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents’ attitudes is needed to ensure good involvement of caregivers, which is crucial ...