1. 47 patients with FLNA associated periventricular nodular heterotopia. Issue 1 (December 2015) Authors: Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias; Mueller, Franziska; Sie... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum. Issue 5 (9th April 2014) Authors: Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie‐Claude; Mcheik, Jiad N.; Oltra Benavent, Manuel; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B.; Stattin, Eva‐Lena; Liebelt, Jan; Keller, Klaus‐Michael; Bert... Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. RARE-14. Newborn with hypothalamic hamartoma and Pallister-Hall syndrome. (3rd June 2022) Authors: Flaßkühler, Anna Meera; Friedrich, Carsten; Beckhaus, Julia; Boekhoff, Svenja; Fiedler, Kai; Becking, Mechthild Schulze; Hitz, Marc-Philipp; Gieldon, Laura; Spranger, Stephanie; Bison, Brigitte; Hoppe, Florian; Müller, Hermann L Journal: Neuro-oncology Issue: Volume 24(2022)Supplement 1 Page Start: i12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗