Detalhe da pesquisa
1.
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Pediatr Dermatol
; 40(6): 1021-1027, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827535
2.
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Am J Med Genet A
; 188(10): 2879-2887, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35920354
3.
Neonatal inflammatory skin and bowel disease type 1 caused by a complex genetic defect and responsive to combined anti-tumour necrosis factor-α and interleukin-12/23 blockade.
Br J Dermatol
; 186(6): 1026-1029, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993966
4.
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.
Br J Dermatol
; 187(3): 392-400, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35606927
5.
Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy.
Br J Dermatol
; 187(5): 826-828, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822394