1. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Issue 6 (23rd April 2013) Authors: Salem, Nabeel J.M.; Hempel, Maja; Heiliger, Katrin‐Janine; Hosie, Stuart; Meitinger, Thomas; Oexle, Konrad Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1421 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. 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) ↗
4. The color Doppler twinkling artifact of implants after endoscopic treatment of vesicoureteral reflux in children: A common finding with high potential for misdiagnosis. Issue 5 (October 2021) Authors: Steinborn, Marc; Kehrer, Lara; Kabs, Carmen; Hosie, Stuart; Huf, Veronika Journal: Journal of pediatric urology Issue: Volume 17:Issue 5(2021) Page Start: 742.e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗