Search Results

  • Showing 1 - 5 results of 5
Refine Results
  1. 1
    Cover Image

    Genetic variants in patients with multiple arterial aneurysms by Körfer, Daniel (Author) , Grond-Ginsbach, Caspar (Author) , Peters, Andreas (Author) , Burkart, Sebastian (Author) , Hempel, Maja (Author) , Schaaf, Christian P. (Author) , Böckler, Dittmar (Author) , Erhart, Philipp (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  2. 2
    Cover Image

    Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease by Ven, Amelie T. van der (Author) , Cabrera-Orefice, Alfredo (Author) , Wente, Isabell (Author) , Feichtinger, René G. (Author) , Tsiakas, Konstantinos (Author) , Weiss, Deike (Author) , Bierhals, Tatjana (Author) , Scholle, Leila (Author) , Prokisch, Holger (Author) , Kopajtich, Robert (Author) , Santer, René (Author) , Mayr, Johannes A. (Author) , Hempel, Maja (Author) , Wittig, Ilka (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  3. 3
    Cover Image

    Genetic overlap between dystonia and other neurologic disorders: a study of 1,100 exomes by Dzinovic, Ivana (Author) , Boesch, Sylvia (Author) , Škorvánek, Matej (Author) , Necpál, Ján (Author) , Švantnerová, Jana (Author) , Pavelekova, Petra (Author) , Havránková, Petra (Author) , Tsoma, Eugenia (Author) , Indelicato, Elisabetta (Author) , Runkel, Eva (Author) , Held, Valentin (Author) , Weise, David (Author) , Janzarik, Wibke (Author) , Eckenweiler, Matthias (Author) , Berweck, Steffen (Author) , Mall, Volker (Author) , Haslinger, Bernhard (Author) , Jech, Robert (Author) , Winkelmann, Juliane (Author) , Zech, Michael (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  4. 4
    Cover Image

    Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening by Haack, Tobias (Author) , Kotzaeridou, Urania (Author) , Hoffmann, Georg F. (Author) ,


    Get full text
    Article (Journal) Conference Paper Online Resource


    Saved in:
  5. 5
    Cover Image

    Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing by Haack, Tobias (Author) , Herberg, Ulrike (Author) , Hoffmann, Georg F. (Author) , Prokisch, Holger (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:

Search Tools: