Table of contents

April 2012 - Volume 49 - 4

New loci

Phenotypes

Somatic mosaicism

Complex traits

Cancer genetics

Copy-number variation

Diagnostics

  • Original article: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
    Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A Mayr, Ulrike Herberg, Julia B Hennermann, Thomas Klopstock, Klaus A Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F Hoffmann, Marketa Tesarova, Hana Hansikova, Jiri Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch

Conference report