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List of works by Birgit Haberberger

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

scientific article

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

scientific article published on 05 May 2012

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

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