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. 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) ↗
4. Phenotype diversity associated with TP63 mutations. (20th May 2022) Authors: Schmetz, Ariane; Xiong, Xing; Cesarato, Nicole; Basmanav, Fitnat Buket; Gierthmuehlen, Petra; Schaper, Jörg; Schlieper, Daniel; Wehner, Maria; Thiele, Holger; Frank, Jorge; Betz, Regina C.; Redler, Silke Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 20:Number 6(2022) Page Start: 872 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Phänotypische Vielfalt bei Varianten im TP63‐Gen. (16th June 2022) Authors: Schmetz, Ariane; Xiong, Xing; Cesarato, Nicole; Basmanav, Fitnat Buket; Gierthmuehlen, Petra; Schaper, Jörg; Schlieper, Daniel; Wehner, Maria; Thiele, Holger; Frank, Jorge; Betz, Regina C.; Redler, Silke Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 20:Number 6(2022) Page Start: 871 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗