Opin vísindi

Fletta eftir efnisorði "Kabuki syndrome"

Fletta eftir efnisorði "Kabuki syndrome"

Röðun: Raða: Niðurstöður:

  • Theodore‐Oklota, Christina; Egan, Shayna; Paulich, Maggie; Evans, Christopher J.; Hartman, Deborah S.; Hoffman, Deborah L.; Bjornsson, Hans (Wiley, 2020-04-04)
    Kabuki syndrome is a genetic disorder that can affect multiple body systems and manifest as congenital abnormalities and both developmental and socio-emotional delays. The condition is largely unknown by most primary care physicians and has no available ...
  • Halldórsdóttir, Sara Tholl (University of Iceland, School of Health Sciences, Faculty of Medicine, 2025-06)
    Kabuki syndrome type 1 (KS1) is a Mendelian disorder of the epigenetic machinery (MDEM) caused by heterozygous pathogenic variants in the histone methyltransferase 2 D (KMT2D). KS is a multi-organ disorder with variable phenotypic presentations among ...