Publications by authors named "Goekhan Uyanik"

10Publications

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Neurogenetics 2007 Nov 29;8(4):279-88. Epub 2007 Sep 29.

Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz-Josef-Strauss-Allee 11, Regensburg 93053, Germany.

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http://dx.doi.org/10.1007/s10048-007-0096-yDOI Listing
November 2007

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.

Eur J Pediatr 2005 May 22;164(5):326-8. Epub 2005 Feb 22.

Department of Neuropaediatrics and Neurophysiology, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland.

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http://dx.doi.org/10.1007/s00431-005-1622-2DOI Listing
May 2005

Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.

Neurogenetics 2004 Jun 25;5(2):83-93. Epub 2004 Mar 25.

Department of Neurology, University of Regensburg, Franz Josef Strauss Allee 11, 93053 Regensburg, Germany.

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http://dx.doi.org/10.1007/s10048-004-0176-1DOI Listing
June 2004