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Dr. Martina Witsch-Baumgartner

Professor
Medical Genetics, Molecular and Clinical Pharmacology
Innsbruck Medical University
Austria

Professor Genetics
Biography

1982-84 University of Paris XII (France), Medecine 1984-88 Eberhard-Karl-University Tübingen (Germany), Human Genetics 1988-89 Master Thesis, Cytogenetic lab (Prof. Bernard Dutrillaux, Institute Curie, Paris, France) 1990-93 Doctoral Thesis, Biochemistry, Human Genetics (Prof. Manfred Schweiger, Innsbruck, Austria) 1994 postdoc (Institute Gaslini, Prof. Giovanni Romeo, Genova, Italy) 1995-97 postdoc (Children’s Hospital, Innsbruck, Austria) Since 1997 position at the Department of Medical Genetics at the University in Innsbruck Since 2007 as Head of the molecular diagnostic laboratory Since 2006 Professor of Human Genetics

Research Intrest

Molecular biology, Medicine, Cardiology, Gynaecology, Genetic Engineering, Dermatology, Medical Genetics, Molecular Genetics, monogenic metabolic diseases

List of Publications
Rauchenzauner M, Frühwirth M, Hecht M, Kofler M, Witsch-Baumgartner M, Fauth C. A Novel variant in the HINT1 gene in a girl with autosomal recessive axonal neuropathy with neuromyotonia: thorough neurological examination gives the clue. Neuropediatrics. 2016 Apr;47(02):119-22.
Rauchenzauner M, Frühwirth M, Hecht M, Kofler M, Witsch-Baumgartner M, Fauth C. A Novel variant in the HINT1 gene in a girl with autosomal recessive axonal neuropathy with neuromyotonia: thorough neurological examination gives the clue. Neuropediatrics. 2016 Apr;47(02):119-22.
Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS. A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine. 2017 Jun 15.
Experts in Austria
Claude Becker Youssef Belkhadir Frederic Berger Wolfgang Busch Armin Djamei Ortrun Mittelsten Scheid Michael Nodine Magnus Nordborg Yasin Dagdas Steve K. Chai Meinrad Busslinger Tim Clausen Luisa Cochella Wulf Haubensak Prof.(FH) Mag. Dr. Harald Hundsberger Prof.(FH) Priv.Doz. Mag. Dr. Andreas Ege Prof.(FH) Priv.Doz. Mag. Dr. Andreas Ege Prof.(FH) Dr. Barbara Entler Nico Jacobi, MSc Prof.(FH) DI Bernhard Klausgraber Prof.(FH) Dr. Christian Klein Prof.(FH) Mag. Dana Mezricky Dipl.Biol. Maren Pflüger, PhD Dr. Mohammad Ahmadi Prof.(FH) DI Dominik Schild View More