Browsing NTNU Open by Author "Fedorova, Sardana A."

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    • A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia) 

      Barashkov, Nikolay A.; Romanov, Georgii P.; Borisova, Uigulaana P.; Solovyev, Aisen V.; Pshennikova, Vera G.; Teryutin, Fedor M.; Bondar, Alexander A.; Morozov, Igor V.; Khusnutdinova, Elza K.; Posukh, Olga L.; Burtseva, Tatiana E.; Odland, Jon Øyvind; Fedorova, Sardana A. (Peer reviewed; Journal article, 2019)
      Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four ...

    • The role of leptin levels in adaptation to cold climates 

      Nikanorova, Alena A.; Barashkov, Nikolay A.; Nakhodkin, Sergey S.; Pshennikova, Vera G.; Solovyev, Aisen V.; Romanov, Georgii P.; Kuzmina, Sargylana S.; Sazonov, Nikolay N.; Burtseva, Tatiana E.; Odland, Jon Øyvind; Fedorova, Sardana A. (Peer reviewed; Journal article, 2020)
      Currently, adipose tissue is considered an endocrine organ that produces hormone-active substances, including leptin, which can play a key role in thermoregulation processes. Therefore, we performed a meta-analysis to ...