1. A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study. (1st October 2021) Authors: Mintoff, D.; Pace, N.P.; Bauer, P.; Borg, I. Journal: Clinical and experimental dermatology Issue: Volume 46:Number 7(2021) Page Start: 1306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study. (27th May 2021) Authors: Mintoff, D.; Pace, N.P.; Bauer, P.; Borg, I. Journal: Clinical and experimental dermatology Issue: Volume 46:Number 7(2021) Page Start: 1306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia. (1st April 2021) Authors: Mintoff, D.; Pace, N. P.; Mercieca, V.; Bauer, P.; Borg, I. Journal: Clinical and experimental dermatology Issue: Volume 46:Number 3(2021) Page Start: 618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia. (20th December 2020) Authors: Mintoff, D.; Pace, N. P.; Mercieca, V.; Bauer, P.; Borg, I. Journal: Clinical and experimental dermatology Issue: Volume 46:Number 3(2021) Page Start: 618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Comorbid palmoplantar keratoderma type 1A and Loeys‐Dietz syndrome type 3 in a patient with a chromosome 15 microdeletion. (31st January 2022) Authors: Mintoff, D.; Pace, N.P; Al‐Kawlani, B.; Bauer, P.; Borg, I. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 36:Number 6(2022) Page Start: e448 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome. Issue 6 (2nd June 2016) Authors: Putoux, A.; Alqahtani, A.; Pinson, L.; Paulussen, A.D.C.; Michel, J.; Besson, A.; Mazoyer, S.; Borg, I.; Nampoothiri, S.; Vasiljevic, A.; Uwineza, A.; Boggio, D.; Champion, F.; de Die‐Smulders, C.E.; Gardeitchik, T.; van Putten, W.K.; Perez, M.J.; Musizzano, Y.; Razavi, F.; Drunat, S. Journal: Clinical genetics Issue: Volume 90:Issue 6(2016) Page Start: 550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗