1. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021) Authors: Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich... Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. (3rd September 2021) Authors: Peng, Chengyao; Dieck, Simon; Schmid, Alexander; Ahmad, Ashar; Knaus, Alexej; Wenzel, Maren; Mehnert, Laura; Zirn, Birgit; Haack, Tobias; Ossowski, Stephan; Wagner, Matias; Brunet, Theresa; Ehmke, Nadja; Danyel, Magdalena; Rosnev, Stanislav; Kamphans, Tom; Nadav, Guy; Fleischer, Nicole; Fröhlich,... Journal: NAR genomics and bioinformatics Issue: Volume 3:issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders. Issue 2 (4th January 2021) Authors: Botto, Lorenzo D.; Meeths, Marie; Campos‐Xavier, Belinda; Bergamaschi, Rosalba; Mazzanti, Laura; Scarano, Emanuela; Finocchi, Andrea; Cancrini, Caterina; Zirn, Birgit; Kühnle, Ingrid; Kramm, Christof Maria; Alanay, Yasemin; Jones, Wendy D.; Irving, Melita; Sabir, Ataf; Henter, Jan‐Inge; Borgström... Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 517 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature. Issue 3 (27th January 2017) Authors: Burgemeister, Anna Lena; Daumiller, Eva; Dietze‐Armana, Ilona; Klett, Christine; Freiberg, Clemens; Stark, Wiebke; Lingen, Michael; Centonze, Izabela; Rettenberger, Günther; Mehnert, Karl; Zirn, Birgit Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epidemiology of inherited epidermolysis bullosa in Germany. (1st November 2022) Authors: Has, Cristina; Hess, Moritz; Anemüller, Waltraud; Blume‐Peytavi, Ulrike; Emmert, Steffen; Fölster‐Holst, Regina; Frank, Jorge; Giehl, Kathrin; Günther, Claudia; Hammersen, Johanna; Hillmann, Kathrin; Höflein, Bettina; Hoeger, Peter H.; Hotz, Alrun; Mai, Thuy Anh; Oji, Vinzenz; Schneider, Holm; Sü... Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 37:Number 2(2023) Page Start: 402 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Menkes disease with discordant phenotype in female monozygotic twins. (4th August 2015) Authors: Burgemeister, Anna Lena; Zirn, Birgit; Oeffner, Frank; Kaler, Stephen G.; Lemm, Gunther; Rossier, Eva; Büttel, Hans‐Martin Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2826 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic spectrum associated with CASK loss-of-function mutations. Issue 11 (27th September 2011) Authors: Moog, Ute; Kutsche, Kerstin; Kortüm, Fanny; Chilian, Bettina; Bierhals, Tatjana; Apeshiotis, Neophytos; Balg, Stefanie; Chassaing, Nicolas; Coubes, Christine; Das, Soma; Engels, Hartmut; Van Esch, Hilde; Grasshoff, Ute; Heise, Marisol; Isidor, Bertrand; Jarvis, Joanna; Koehler, Udo; Martin, Thoma... Journal: Journal of medical genetics Issue: Volume 48:Issue 11(2011) Page Start: 741 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. Issue 2 (April 2018) Authors: Henn, Alina; Weng, Harald; Novak, Simon; Rettenberger, Günther; Gerhardinger, Andreas; Rossier, Eva; Zirn, Birgit Journal: Clinical dysmorphology Issue: Volume 27:Issue 2(2018:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. Issue 3 (18th March 2013) Authors: Wildhardt, Gabriele; Zirn, Birgit; Graul-Neumann, Luitgard M; Wechtenbruch, Juliane; Suckfüll, Markus; Buske, Annegret; Bohring, Axel; Kubisch, Christian; Vogt, Stefanie; Strobl-Wildemann, Gertrud; Greally, Marie; Bartsch, Oliver; Steinberger, Daniela Journal: BMJ open Issue: Volume 3:Issue 3(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice. Issue 4 (3rd March 2019) Authors: Pringsheim, Milka; Mitter, Diana; Schröder, Simone; Warthemann, Rita; Plümacher, Kim; Kluger, Gerhard; Baethmann, Martina; Bast, Thomas; Braun, Sarah; Büttel, Hans‐Martin; Conover, Elizabeth; Courage, Carolina; Datta, Alexandre N.; Eger, Angelika; Grebe, Theresa A.; Hasse‐Wittmer, Annette; Heruth... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗