Now showing items 1-2 of 2

    • New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing 

      Keller Ab; Graefen A; Ball M; Matzas M; Boisguerin V; Maixner F; Leidinger P; Backes C; Khairat R; Forster M; Stade B; Franke A; Mayer J; Spangler J; McLaughlin S; Shah M; Lee C; Harkins T; Sartori A; Moreno-Estrada A; Henn B; Sikora M; Semino O; Chiaroni J; Rootsi S; Myres N; Cabrera V; Underhill P; Bustamante C; Vigl E; Samadelli M; Cipollini G; Haas J; Katus H; O'Connor Bq; Carlson M; Meder B; Blin Ns; Meese E; Pusch C; Zink A (2012)
      The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% ...
    • Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies 

      Meder B; Haas J; Keller A; Heid C; Just S; Borries A; Boisguerin V; Scharfenberger-Schmeer M; Stähler P; Beier M; Weichenhan D; Strom TM; Pfeufer A; Korn B; Katus HA; Rottbauer W (2011)
      BACKGROUND: Today, mutations in more than 30 different genes have been found to cause inherited cardiomyopathies, some associated with very poor prognosis. However, because of the genetic heterogeneity and limitations in ...