Concepedia
Statistics
Publications
10
Citations
1.4K
H-Index
Active since
2010
Affiliations
Technical University of Munich(Current)
Helmholtz Zentrum München
Paracelsus Medical University
Fondazione IRCCS Istituto Neurologico Carlo Besta
München Klinik
Birgit Haberberger is an author at Technical University of Munich specializing in molecular genetics, life sciences, and genetics.
Publications per year
2010–2015
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
Shazia Ashraf, Heon Yung Gee, Stéphanie Woerner et al. · Journal of Clinical Investigation · 2013 · 341 citations · Full text
Medicine, Genetics, Molecular Genetics +15
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics · 2010 · 252 citations
Life Sciences, Genetics, Molecular Genetics +9
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf et al. · The American Journal of Human Genetics · 2012 · 218 citations · Full text
Life Sciences, Cell Biology, Molecular Genetics +10
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 185 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Homozygous missense mutation in <i>BOLA3</i> causes multiple mitochondrial dysfunctions syndrome in two siblings
Tobias B. Haack, Boris Rolinski, Birgit Haberberger et al. · Journal of Inherited Metabolic Disease · 2012 · 94 citations
Life Sciences, Genetics, Molecular Genetics +14
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