1. Defining the phenotypical spectrum associated with variants in TUBB2A. Issue 1 (22nd June 2020) Authors: Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria S... Journal: Journal of medical genetics Issue: Volume 58:Issue 1(2021) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms. (March 2015) Authors: Kehrer, Martin; Liehr, Thomas; Benkert, Tanja; Singer, Sylke; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Weichselbaum, Annette; Tzschach, Andreas Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 653 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗