Browsing Det helsevitenskapelige fakultet by Author "Dahl Rendtorff, Nanna"

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    • Usher syndrome in Denmark: mutation Spectrum and some clinical observations 

      Dad, Sheena; Dahl Rendtorff, Nanna; Tranebjærg, Lisbeth; Grønskov, Karen; Gasdal Karstensen, Helena; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Francoise; Rosenberg, Thomas; Jensen, Hanne; Birk Møller, Lisbeth (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-05-12)
      Background:<br> Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.<br> Methods:<br> Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.<br> Results:<br> Before Next Generation Sequencing (NGS) became available ...