Stefanie Märzheuser

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Pawaree Saisawat, Stefan Kohl, Alina C. Hilger et al. · Kidney International · 2013 · 127 citations · Full text

Biology, Genetic Disorder, Natural Sciences +9

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

Charlotte H. W. Wijers, Ivo de Blaauw, Carlo Marcelis et al. · Pediatric Surgery International · 2010 · 70 citations · Full text

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformations

Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis et al. · American Journal of Medical Genetics Part A · 2013 · 66 citations

Stereotactic brain biopsy in AIDS

Claus Zimmer, Stefanie Märzheuser, Stephan Patt et al. · Journal of Neurology · 1992 · 41 citations

Neurovirology, Medicine, Neuroimaging +9

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Alina C. Hilger, Charlotte Schramm, Tracie Pennimpede et al. · European Journal of Human Genetics · 2013 · 41 citations · Full text

Engineering, Medicine, Pathogenesis +8