1. Additional causal SNRPE mutations in hereditary hypotrichosis simplex. (1st August 2021) Authors: Pan, C.; Humbatova, A.; Zheng, L.; Cesarato, N.; Grimm, C.; Chen, F.; Blaumeiser, B.; Catalán‐Lambán, A.; Patiño‐García, A.; Fischer, U.; Cheng, R.; Li, Y.; Yu, X.; Yao, Z.; Li, M.; Betz, R.C. Journal: British journal of dermatology Issue: Volume 185:Number 2(2021) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Additional causal SNRPE mutations in hereditary hypotrichosis simplex. (25th May 2021) Authors: Pan, C.; Humbatova, A.; Zheng, L.; Cesarato, N.; Grimm, C.; Chen, F.; Blaumeiser, B.; Catalán‐Lambán, A.; Patiño‐García, A.; Fischer, U.; Cheng, R.; Li, Y.; Yu, X.; Yao, Z.; Li, M.; Betz, R.C. Journal: British journal of dermatology Issue: Volume 185:Number 2(2021) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cole disease due to a novel pathogenic variant in the ENPP1 gene. (8th March 2022) Authors: Nanda, A.; Xiong, X.; AlLafi, A.; Cesarato, N.; Betz, R. C. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 36:Number 7(2022) Page Start: e559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗