1. A COL7A1 variant leading to in‐frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa. (26th August 2015) Authors: Schwieger‐Briel, A.; Weibel, L.; Chmel, N.; Leppert, J.; Kernland‐Lang, K.; Grüninger, G.; Has, C. Journal: British journal of dermatology Issue: Volume 173:Number 5(2015:Nov.) Page Start: 1308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A COL7A1 variant leading to in‐frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa. (1st November 2015) Authors: Schwieger‐Briel, A.; Weibel, L.; Chmel, N.; Leppert, J.; Kernland‐Lang, K.; Grüninger, G.; Has, C. Journal: British journal of dermatology Issue: Volume 173:Number 5(2015:Nov.) Page Start: 1308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A case of mosaicism in ectodermal dysplasia–skin fragility syndrome. (1st October 2017) Authors: Vázquez‐Osorio, I.; Chmel, N.; Rodríguez‐Díaz, E.; Gonzalvo‐Rodríguez, P.; Happle, R.; Bueno, E.; Has, C.; Torrelo, A. Journal: British journal of dermatology Issue: Volume 177:Number 4(2017) Page Start: e101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A case of mosaicism in ectodermal dysplasia–skin fragility syndrome. (14th September 2017) Authors: Vázquez‐Osorio, I.; Chmel, N.; Rodríguez‐Díaz, E.; Gonzalvo‐Rodríguez, P.; Happle, R.; Bueno, E.; Has, C.; Torrelo, A. Journal: British journal of dermatology Issue: Volume 177:Number 4(2017) Page Start: e101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FERMT1 promoter mutations in patients with Kindler syndrome. (7th October 2014) Authors: Has, C.; Chmel, N.; Levati, L.; Neri, I.; Sonnenwald, T.; Pigors, M.; Godbole, K.; Dudhbhate, A.; Bruckner‐Tuderman, L.; Zambruno, G.; Castiglia, D. Journal: Clinical genetics Issue: Volume 88:Number 3(2015:Sep.) Page Start: 248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗