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Fletta eftir efnisorði "Erfðasjúkdómar"

Fletta eftir efnisorði "Erfðasjúkdómar"

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 ...
  • Adalsteinsdottir, Berglind; Burke, Michael; Maron, Barry J; Danielsen, Ragnar; Lopez, Begoña; Díez Martínez, Domingo Francisco Javier; Jarolim, Petr; Seidman, Jonathan; Seidman, Christine E.; Ho, Carolyn Y; Gunnarsson, Gunnar Þ (BMJ, 2020-04-05)
    Objective The myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among ...