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The Journal of Investigative Dermatology|May 18, 2012
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutationsJennifer A Easton, Steven Donnelly, Miriam A F Kamps, et al.American Journal of Human Genetics|December 29, 2005
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndromeAndrew J Cassidy, Maurice A M van Steensel, Peter M Steijlen, et al.The Journal of Investigative Dermatology|November 25, 2006
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patientsMaurice A M van Steensel, Valerie L R M Verstraeten, Jorge Frank, et al.The Journal of Allergy and Clinical Immunology|January 25, 2024
Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitisJulia Clabbers, Celeste Boesjes, Lotte Spekhorst, et al.Acta Dermato-Venereologica|June 11, 2026
Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview StudyFauve C A P Van Veen, Otte J M Borghouts, Julia M K Clabbers, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|October 1, 2024
Long-term remission of Hailey-Hailey disease by Er:YAG ablative laser therapyMarie-Eline P H Debeuf, Kèvin Knoops, Carmen López-Iglesias, et al.Experimental Dermatology|March 24, 2018
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell deathJennifer A Easton, Ahmad K Albuloushi, Miriam A F Kamps, et al.Kidney Medicine|March 17, 2023
Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 FamiliesSander Groen In 't Woud, Ilse M Rood, Eric Steenbergen, et al.Biomedicines|February 24, 2024
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus SyndromeGuido M J M Roemen, Tom E J Theunissen, Ward W J Hoezen, et al.Experimental Dermatology|February 4, 2015
Novel TGM5 mutations in acral peeling skin syndromeJaap J A J van der Velden, Michel van Geel, Ruud G L Nellen, et al.Pageof 6