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Browsing by Author "Jónsson, Jón Jóhannes"

Browsing by Author "Jónsson, Jón Jóhannes"

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    Lyfjaþolinn háþrýstingur – hjáhnoðuæxli : Sjúkratilfelli. 
    Jonsson, Krister Blaer; Guðmundsson, Eiríkur Orri; Sigurðardóttir, Margrét; Jónsson, Jón Jóhannes; Sigurjónsdóttir, Helga Ágústa (2023-03-02)
    Ágrip Fjallað er um karlmann með þriggja áratuga sögu um lyfjaþolinn háþrýsting, svitaköst, hjartsláttaróþægindi og járnbragð í munni. Þrátt fyrir endurteknar komur á bráðamóttöku og uppvinnslu á göngudeild var undirliggjandi orsök ekki greind. Síðustu ...
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    Molecular genetics of inherited retinal degenerations in Icelandic patients 
    Thorsteinsson, Daniel A.; Stefánsdóttir, Vigdís Fjóla; Eysteinsson, Þór; Thorisdottir, Sigridur; Jónsson, Jón Jóhannes (2021-08)
    The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous ...
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    Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants 
    Peters, Tessa M.A.; Lammerts van Bueren, Irma; Geurtz, Ben P.B.H.; Coene, Karlien L.M.; de Leeuw, Nicole; Brunner, Han G.; Jónsson, Jón Jóhannes; Willemsen, Michèl A.A.P.; Wevers, Ron A.; Verbeek, Marcel M. (2020-12-28)
    Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities. Genetic variants ...