1. A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome. Issue 3 (11th December 2019) Authors: Koehler, Katrin; Schuelke, Markus; Hell, Anna K.; Schittkowski, Michael; Huebner, Angela; Brockmann, Knut Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 570 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Issue 6 (8th April 2014) Authors: Thorwarth, Anne; Schnittert-Hübener, Sarah; Schrumpf, Pamela; Müller, Ines; Jyrch, Sabine; Dame, Christof; Biebermann, Heike; Kleinau, Gunnar; Katchanov, Juri; Schuelke, Markus; Ebert, Grit; Steininger, Anne; Bönnemann, Carsten; Brockmann, Knut; Christen, Hans-Jürgen; Crock, Patricia; deZegher, F... Journal: Journal of medical genetics Issue: Volume 51:Issue 6(2014) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany. Issue 11 (November 2019) Authors: Kahlert, Elin; Blaschke, Martina; Brockmann, Knut; Freiberg, Clemens; Janssen, Onno E; Stahnke, Nikolaus; Strik, Domenika; Merkel, Martin; Mann, Alexander; Liesenkötter, Klaus-Peter; Siggelkow, Heide Journal: Endocrine connections Issue: Volume 8:Issue 11(2019) Page Start: 1483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. (March 2018) Authors: Tacke, Moritz; Borggraefe, Ingo; Gerstl, Lucia; Heinen, Florian; Vill, Katharina; Bonfert, Michaela; Bast, Thomas; Neubauer, Bernd Axel; Baumeister, Friedrich; Baethmann, Martina; Bentele, Karl; Blank, Christian; Blank, Harald M.; Bode, Harald; Bosch, Friedrich; Brandl, Ulrich; Brockmann, Knut; D... Journal: Seizure Issue: Volume 56(2018) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy. (28th October 2022) Authors: Döring, Jan H.; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Klabunde-Cherwon, Annick; Kluger, Gerhard; Muhle, Hiltrud; Pendziwiat, Manuela; Møller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Schröter, Julian; Hoffmann, Georg F.; Kölker... Journal: Neurology Issue: Volume 8:Number 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Issue 12 (20th July 2016) Authors: Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, C... Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Erosive tooth wear and caries experience in children and adolescents with obesity. (April 2019) Authors: Tschammler, Claudia; Simon, Alexandra; Brockmann, Knut; Röbl, Markus; Wiegand, Annette Journal: Journal of dentistry Issue: Volume 83(2019:Apr.) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Evidence of pathogenicity for the leaky splice variant c.1066‐6T>G in ATM. Issue 12 (11th September 2020) Authors: Schröder, Simone; Wieland, Britta; Ohlenbusch, Andreas; Yigit, Gökhan; Altmüller, Janine; Boltshauser, Eugen; Dörk, Thilo; Brockmann, Knut Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 2971 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hemifacial spasm through changes of cerebrospinal fluid pressure in idiopathic intracranial hypertension. Issue 1 (2nd January 2023) Authors: Petersen, Gabriel Cassinelli; Amirkhizi, Mitra; Brockmann, Knut; Dibaj, Payam Journal: Proceedings Issue: Volume 36:Issue 1(2023) Page Start: 114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗