1. A unique LAMB3 splice‐site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. (1st October 2016) Authors: Mayer, B.; Silló, P.; Mazán, M.; Pintér, D.; Medvecz, M.; Has, C.; Castiglia, D.; Petit, F.; Charlesworth, A.; Hatvani, Zs.; Pamjav, H.; Kárpáti, S. Journal: British journal of dermatology Issue: Volume 175:Number 4(2016) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A unique LAMB3 splice‐site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. (8th August 2016) Authors: Mayer, B.; Silló, P.; Mazán, M.; Pintér, D.; Medvecz, M.; Has, C.; Castiglia, D.; Petit, F.; Charlesworth, A.; Hatvani, Zs.; Pamjav, H.; Kárpáti, S. Journal: British journal of dermatology Issue: Volume 175:Number 4(2016) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting). (7th November 2016) Authors: Dănescu, S.; Leppert, J.; Cosgarea, R.; Zurac, S.; Pop, S.; Baican, A.; Has, C. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 31:Number 3(2017) Page Start: e144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗