1. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. (16th May 2022) Authors: Ou, Sokounthie; Cesarato, Nicole; Mauran, Pierre; Gellé, Marie‐Paule; Thiele, Holger; Betz, Regina C.; Viguier, Manuelle; Gusdorf, Laurence Journal: Clinical and experimental dermatology Issue: Volume 47:Number 7(2022) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. (1st July 2022) Authors: Ou, Sokounthie; Cesarato, Nicole; Mauran, Pierre; Gellé, Marie‐Paule; Thiele, Holger; Betz, Regina C.; Viguier, Manuelle; Gusdorf, Laurence Journal: Clinical and experimental dermatology Issue: Volume 47:Number 7(2022) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015) Authors: Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A woman with hyperpigmented macules and papules. (9th November 2021) Authors: Schnabel, Viktor; Hermasch, Matthias A.; Wolf, Sabrina; Schön, Michael P.; Betz, Regina C.; Frank, Jorge Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 19:Number 11(2021) Page Start: 1656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse‐Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. Issue 1 (9th September 2013) Authors: Nanda, Arti; Pasternack, Sandra M.; Mahmoudi, Hassnaa; Ishorst, Nina; Grimalt, Ramon; Betz, Regina C. Journal: Pediatric dermatology Issue: Volume 31:Issue 1(2014) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Ausgewählte Genodermatosen – Stand der Dinge und Zukunftsaussichten. (18th April 2023) Authors: Frank, Jorge; Has, Cristina; Betz, Regina C. Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 21:Number 4(2023) Page Start: 337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Ein neues Forum für seltene Hauterkrankungen. (26th June 2019) Authors: Emmert, Steffen; Iben, Sebastian; Fischer, Judith; Komlosi, Katalin; Betz, Regina C.; Frank J, Jorge; Has, Christina Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 6(2019) Page Start: 672 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Eine Frau mit hyperpigmentierten Maculae und Papeln. (22nd November 2021) Authors: Schnabel, Viktor; Hermasch, Matthias A.; Wolf, Sabrina; Schön, Michael P.; Betz, Regina C.; Frank, Jorge Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 19:Number 11(2021) Page Start: 1655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. Issue 12 (27th July 2021) Authors: Cesarato, Nicole; Wehner, Maria; Ghughunishvili, Mariam; Schmidt, Axel; Axt, Daisy; Thiele, Holger; Lentze, Michael J.; Has, Cristina; Geyer, Matthias; Basmanav, Fitnat Buket; Betz, Regina C. Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetic lessons learned from pathogenic variants in KRT1. (15th September 2022) Authors: Betz, Regina C. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 36:Number 10(2022) Page Start: 1683 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗