1. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations. Issue 12 (16th August 2013) Authors: Dworschak, Gabriel C.; Draaken, Markus; Marcelis, Carlo; de Blaauw, Ivo; Pfundt, Rolph; van Rooij, Iris A.L.M.; Bartels, Enrika; Hilger, Alina; Jenetzky, Ekkehart; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Schmidt, Dominik; Märzheuser, Stefanie; Hosie, Stuart; Weih, Sandra; Holland‐Cunz, Stef... Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3035 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations. Issue 12 (16th August 2013) Authors: Dworschak, Gabriel C.; Draaken, Markus; Marcelis, Carlo; de Blaauw, Ivo; Pfundt, Rolph; van Rooij, Iris A.L.M.; Bartels, Enrika; Hilger, Alina; Jenetzky, Ekkehart; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Schmidt, Dominik; Märzheuser, Stefanie; Hosie, Stuart; Weih, Sandra; Holland‐Cunz, Stef... Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3035 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Issue 10 (8th August 2014) Authors: Zeidler, Claudia; Woelfle, Joachim; Draaken, Markus; Mughal, Sadaf S.; Große, Greta; Hilger, Alina C.; Dworschak, Gabriel C.; Boemers, Thomas M.; Jenetzky, Ekkehart; Zwink, Nadine; Lacher, Martin; Schmidt, Dominik; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Märzheuser, Stefanie; Holland‐Cunz, ... Journal: Birth defects research Issue: Volume 100:Issue 10(2014:Oct.) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗