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. Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5. Issue 8 (15th September 2022) Authors: Lange, Lara M.; Schell, Nathalie; Tunc, Sinem; Shoukier, Moneef; Weißbach, Anne; Hellenbroich, Yorck; Brüggemann, Norbert Journal: Movement disorders clinical practice Issue: Volume 9:Issue 8(2022) Page Start: 1116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. (24th November 2020) Authors: Gisatulin, Maria; Dobricic, Valerija; Zühlke, Christine; Hellenbroich, Yorck; Tadic, Vera; Münchau, Alexander; Isenhardt, Klaus; Bürk, Katrin; Bahlo, Melanie; Lockhart, Paul J.; Lohmann, Katja; Helmchen, Christoph; Brüggemann, Norbert Journal: Neurology Issue: Volume 95:Number 21(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia. Issue 6 (14th June 2021) Authors: Pauly, Martje G.; Hellenbroich, Yorck; Grundmann‐Hauser, Kathrin; Hinrichs, Frauke; Lohmann, Katja; Brüggemann, Norbert Journal: Movement disorders clinical practice Issue: Volume 8:Issue 6(2021) Page Start: 972 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Issue 1 (20th December 2016) Authors: Rath, Matthias; Spiegler, Stefanie; Nath, Neetika; Schwefel, Konrad; Di Donato, Nataliya; Gerber, Johannes; Korenke, G. Christoph; Hellenbroich, Yorck; Hehr, Ute; Gross, Stephanie; Sure, Ulrich; Zoll, Barbara; Gilberg, Eberhard; Kaderali, Lars; Felbor, Ute Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 1(2017) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Issue 7 (28th April 2016) Authors: Günther, Sven; Elert‐Dobkowska, Ewelina; Soehn, Anne S.; Hinreiner, Sophie; Yoon, Grace; Heller, Raoul; Hellenbroich, Yorck; Hübner, Christian A.; Ray, Peter N.; Hehr, Ute; Bauer, Peter; Sulek, Anna; Beetz, Christian Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 703 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors. Issue 2 (14th January 2014) Authors: Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schröder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G. Chri... Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema. Issue 1 (14th February 2019) Authors: Recke, Andreas; Massalme, Elisabeth G.; Jappe, Uta; Steinmüller‐Magin, Lars; Schmidt, Julia; Hellenbroich, Yorck; Hüning, Irina; Gillessen‐Kaesbach, Gabriele; Zillikens, Detlef; Hartmann, Karin Journal: Clinical and translational allergy Issue: Volume 9:Issue 1(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report. Issue 7 (21st July 2021) Authors: Scharf, Jann Lennard; Gembicki, Michael; Dracopoulos, Christoph; Hellenbroich, Yorck; Offermann, Anne; Stichtenoth, Guido; Tafazzoli‐Lari, Kianusch; Tharun, Lars; Weichert, Jan Journal: Clinical case reports Issue: Volume 9:Issue 7(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Microdeletion 5q14.3 and anomalies of brain development. Issue 9 (4th July 2013) Authors: Hotz, Alrun; Hellenbroich, Yorck; Sperner, Jürgen; Linder‐Lucht, Michaela; Tacke, Uta; Walter, Caren; Caliebe, Almuth; Nagel, Inga; Saunders, Dawn E.; Wolff, Gerhard; Martin, Peter; Morris‐Rosendahl, Deborah J. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗