Anne Kesselheim

Sulfite oxidation in the purple sulfur bacterium Allochromatium vinosum: identification of SoeABC as a major player and relevance of SoxYZ in the process

Christiane Dahl, Bettina Franz, Daniela Hensen et al. · Microbiology · 2013 · 119 citations

Biology, Phototrophic Sulfur Bacteria, Biosynthesis +15

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu et al. · Journal of the American Society of Nephrology · 2017 · 111 citations · Full text

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Markus Reichold, Enriko Klootwijk, Jörg Reinders et al. · Journal of the American Society of Nephrology · 2018 · 87 citations · Full text

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A

Valentina Marchesin, Albert Pérez‐Martí, Gwenn Le Meur et al. · Cell Reports · 2019 · 39 citations · Full text

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Markus Draaken, Carmen A. Giesen, Anne Kesselheim et al. · Human Genetics · 2011 · 19 citations

Lowe Syndrome Family, Allelic Variant, Genetic Disorder +10