Items where Author is "Janecke, Andreas R."

2015

Safka Brozkova, Dana and Deconinck, Tine and Griffin, Laurie Beth and Ferbert, Andreas and Haberlova, Jana and Mazanec, Radim and Lassuthova, Petra and Roth, Christian and Pilunthanakul, Thanita and Rautenstrauss, Bernd and Janecke, Andreas R. and Zavadakova, Petra and Chrast, Roman and Rivolta, Carlo and Zuchner, Stephan and Antonellis, Anthony and Beg, Asim A. and De Jonghe, Peter and Senderek, Jan and Seeman, Pavel and Baets, Jonathan. (2015) Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain, 138 (8). pp. 2161-2172.

2011

Papi?, Lea and Fischer, Dirk and Trajanoski, Slave and Höftberger, Romana and Fischer, Carina and Ströbel, Thomas and Schmidt, Wolfgang M. and Bittner, Reginald E. and Schabhüttl, Maria and Gruber, Karin and Pieber, Thomas R. and Janecke, Andreas R. and Auer-Grumbach, Michaela. (2011) SNP-array based whole genome homozygosity mapping : a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients. European journal of medical genetics, Vol. 54, H. 3. pp. 214-219.

2010

Glueckert, Rudolf and Rask-Andersen, Helge and Sergi, Consolato and Schmutzhard, Joachim and Mueller, Bert and Beckmann, Felix and Rittinger, Olaf and Hoefsloot, Lies H. and Schrott-Fischer, Anneliese and Janecke, Andreas R.. (2010) Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. American journal of medical genetics. Part A, Vol. 152, H. 3. pp. 665-673.