Concepedia

Birgit Haberberger

BH

Statistics

Publications

10

Citations

1.4K

H-Index

10

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 medicine, molecular genetics, and mitochondrial function.

Top concepts

Publications per year

2010–2015

10

Publications

10

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 · 333 citations · Full text

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics · 2010 · 248 citations

, , +8

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

, , +7

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 · 183 citations · Full text

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 · 93 citations

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