71. Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations. Issue 1 (12th February 2021) Authors: Zirn, B.; Bernbeck, U.; Alt, K.; Oeffner, F.; Gerhardinger, A.; Has, C. Journal: Skin health and disease Issue: Volume 1:Issue 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
72. Secukinumab for the treatment of SAM syndrome associated with desmoglein‐1 deficiency. (1st April 2021) Authors: Frommherz, L.H.; Schempp, C.M.; Has, C. Journal: British journal of dermatology Issue: Volume 184:Number 4(2021) Page Start: 770 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
73. Secukinumab for the treatment of SAM syndrome associated with desmoglein‐1 deficiency. (28th December 2020) Authors: Frommherz, L.H.; Schempp, C.M.; Has, C. Journal: British journal of dermatology Issue: Volume 184:Number 4(2021) Page Start: 770 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
74. Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. (28th April 2017) Authors: Zimmer, A.D.; Kim, G.J.; Hotz, A.; Bourrat, E.; Hausser, I.; Has, C.; Oji, V.; Stieler, K.; Vahlquist, A.; Kunde, V.; Weber, B.; Radner, F.P.W.; Leclerc‐Mercier, S.; Schlipf, N.; Demmer, P.; Küsel, J.; Fischer, J. Journal: British journal of dermatology Issue: Volume 177:Number 2(2017) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
75. Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. (1st August 2017) Authors: Zimmer, A.D.; Kim, G.J.; Hotz, A.; Bourrat, E.; Hausser, I.; Has, C.; Oji, V.; Stieler, K.; Vahlquist, A.; Kunde, V.; Weber, B.; Radner, F.P.W.; Leclerc‐Mercier, S.; Schlipf, N.; Demmer, P.; Küsel, J.; Fischer, J. Journal: British journal of dermatology Issue: Volume 177:Number 2(2017) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
76. Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis. (26th September 2019) Authors: Frommherz, L.; Küsel, J.; Zimmer, A.; Fischer, J.; Has, C. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: 780 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
77. Successful treatment of Pachyonychia congenita with Rosuvastatin. (27th May 2020) Authors: Frommherz, L.; Has, C. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 34:Number 9(2020) Page Start: e480 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
78. Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. (1st November 2014) Authors: Szczecinska, W.; Nesteruk, D.; Wertheim‐Tysarowska, K.; Greenblatt, D.T.; Baty, D.; Browne, F.; Liu, L.; Ozoemena, L.; Terron‐Kwiatkowski, A.; McGrath, J.A.; Mellerio, J.E.; Morton, J.; Woźniak, K.; Kowalewski, C.; Has, C.; Moss, C. Journal: British journal of dermatology Issue: Volume 171:Number 5(2014:Nov.) Page Start: 1206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
79. Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. (20th October 2014) Authors: Szczecinska, W.; Nesteruk, D.; Wertheim‐Tysarowska, K.; Greenblatt, D.T.; Baty, D.; Browne, F.; Liu, L.; Ozoemena, L.; Terron‐Kwiatkowski, A.; McGrath, J.A.; Mellerio, J.E.; Morton, J.; Woźniak, K.; Kowalewski, C.; Has, C.; Moss, C. Journal: British journal of dermatology Issue: Volume 171:Number 5(2014:Nov.) Page Start: 1206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
80. Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. (20th October 2014) Authors: Szczecinska, W.; Nesteruk, D.; Wertheim‐Tysarowska, K.; Greenblatt, D.T.; Baty, D.; Browne, F.; Liu, L.; Ozoemena, L.; Terron‐Kwiatkowski, A.; McGrath, J.A.; Mellerio, J.E.; Morton, J.; Woźniak, K.; Kowalewski, C.; Has, C.; Moss, C. Journal: British journal of dermatology Issue: Volume 171:Number 5(2014:Nov.) Page Start: 1206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗