1. Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. (9th February 2013) Authors: Fuchs‐Telem, D.; Padalon‐Brauch, G.; Sarig, O.; Sprecher, E. Journal: Clinical and experimental dermatology Issue: Volume 38:Number 2(2013) Page Start: 189 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris. (1st May 2014) Authors: Eytan, O.; Qiaoli, L.; Nousbeck, J.; van Steensel, M.A.M.; Burger, B.; Hohl, D.; Taïeb, A.; Prey, S.; Bachmann, D.; Avitan‐Hersh, E.; Jin Chung, H.; Shemer, A.; Trau, H.; Bergman, R.; Fuchs‐Telem, D.; Warshauer, E.; Israeli, S.; Itin, P.H.; Sarig, O.; Uitto, J. Journal: British journal of dermatology Issue: Volume 170:Number 5(2014:May) Page Start: 1196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris. (May 2014) Authors: Eytan, O.; Qiaoli, L.; Nousbeck, J.; van Steensel, M.A.M.; Burger, B.; Hohl, D.; Taïeb, A.; Prey, S.; Bachmann, D.; Avitan‐Hersh, E.; Jin Chung, H.; Shemer, A.; Trau, H.; Bergman, R.; Fuchs‐Telem, D.; Warshauer, E.; Israeli, S.; Itin, P.H.; Sarig, O.; Uitto, J. Journal: British journal of dermatology Issue: Volume 170:Number 5(2014:May) Page Start: 1196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome. (1st April 2014) Authors: Fuchs‐Telem, D.; Nousbeck, J.; Singer, A.; McGrath, J. A.; Sarig, O.; Sprecher, E. Journal: Clinical and experimental dermatology Issue: Volume 39:Number 3(2014) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome. (April 2014) Authors: Fuchs‐Telem, D.; Nousbeck, J.; Singer, A.; McGrath, J. A.; Sarig, O.; Sprecher, E. Journal: Clinical and experimental dermatology Issue: Volume 39:Number 3(2014) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Non‐syndromic autosomal recessive congenital ichthyosis in the Israeli population. (26th April 2013) Authors: Israeli, S.; Goldberg, I.; Fuchs‐Telem, D.; Bergman, R.; Indelman, M.; Bitterman‐Deutsch, O.; Harel, A.; Mashiach, Y.; Sarig, O.; Sprecher, E. Journal: Clinical and experimental dermatology Issue: Volume 38:Number 8(2013) Page Start: 911 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗