Eberhard Schmiedeke

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 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations

H.J.J. van der Steeg, Eberhard Schmiedeke, Pietro Bagolan et al. · Techniques in Coloproctology · 2015 · 84 citations · Full text

Medicine, Surgery, Pediatric Plastic Surgery +13

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

Life Sciences, Genetics, Molecular Genetics +17

First results of a European multi-center registry of patients with anorectal malformations

Ivo de Blaauw, Charlotte H. W. Wijers, Eberhard Schmiedeke et al. · Journal of Pediatric Surgery · 2013 · 70 citations

Medicine, Pediatrics, Eating Disorders +6

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

Life Sciences, Genetics, Molecular Genetics +17