Concepedia
Statistics
Publications
3
Citations
232
H-Index
Active since
2010
Affiliations
Technical University of Munich(Current)
Helmholtz Zentrum München
Newcastle University
Paracelsus Medical University
Florence Madignier is an author at Technical University of Munich specializing in genetics, molecular genetics, and medical genetics.
Publications per year
2010–2011
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
John F. O’Toole, Yangjian Liu, Erica E. Davis et al. · Journal of Clinical Investigation · 2010 · 118 citations · Full text
Medicine, Genetics, Molecular Genetics +16
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including <i>NDUFB9</i>
Tobias B. Haack, Florence Madignier, Martina Herzer et al. · Journal of Medical Genetics · 2011 · 93 citations
Life Sciences, Genetics, Molecular Genetics +15
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
Johannes A. Mayr, Olaf A. Bodamer, Tobias B. Haack et al. · Molecular Genetics and Metabolism · 2011 · 21 citations
Life Sciences, Genetics, Molecular Genetics +10
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