Blar i Department of Clinical Medicine på forfatter "Reiter, Simone B. C. Frizell"

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    • Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 

      Mannucci, Ilaria; Dang, Nghi D. P.; Huber, Hannes; Murry, Jaclyn B.; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J.; Berland, Siren; Bierhals, Tatjana; Bilan, Frédéric; Bindoff, Laurence A.; Braathen, Geir Julius; Busk, Øyvind; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F.; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A.; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar Douzgos; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenaël; Ljungblad, Ulf Wike; Martinez-Agosto, Julian A.; Brenman, Leslie Manace; Might, Matthew; Miller, David T.; Minks, Kelly Q.; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F.; Parant, John M.; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone B. C. Frizell; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B.; Slavotinek, Anne; Smithson, Sarah; Stegmann, Alexander P. A.; Tomczak, Kinga; Tveten, Kristian; Wang, Jun; Whitlock, Jordan H.; Zweier, Christiane; McWalter, Kirsty; Juusola, Jane; Quintero-Rivera, Fabiola; Fischer, Utz; Yeo, Nan Cher; Kreienkamp, Hans-Jürgen; Lessel, Davor (Journal article; Peer reviewed, 2021)
      Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals ...

    • Psychiatric Comorbidity, Social Aspects and Quality of Life in a Population-Based Cohort of Expecting Fathers with Epilepsy 

      Reiter, Simone B. C. Frizell; Veiby, Gyri; Bjørk, Marte Helene; Engelsen, Bernt; Daltveit, Anne Kjersti; Gilhus, Nils Erik (Peer reviewed; Journal article, 2015-12-04)
      Objectives. To investigate psychiatric disorders, adverse social aspects and quality of life in men with epilepsy during partner’s pregnancy. Method. We used data from the Norwegian Mother and Child Cohort Study, including ...