Detalhe da pesquisa
1.
WNT10A, dermatology and dentistry.
Br J Dermatol
; 185(6): 1105-1111, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184264
2.
A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics.
Br J Dermatol
; 184(4): 606-616, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32628274
3.
Prevalence, pathophysiology and management of itch in epidermolysis bullosa.
Br J Dermatol
; 184(5): 816-825, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32810291
4.
Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.
Br J Dermatol
; 184(5): 935-943, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32790068
5.
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Br J Dermatol
; 182(3): 729-737, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31168818
6.
Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.
Lung
; 196(2): 231-238, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368042
7.
A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis.
Br J Dermatol
; 184(5): 967-970, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33301597
8.
Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.
Clin Exp Dermatol
; 45(6): 789-792, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275080
9.
Molecular basis and inheritance patterns of amyloidosis cutis dyschromica.
Clin Exp Dermatol
; 45(5): 650-653, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097499
10.
Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL.
Clin Exp Dermatol
; 45(3): 391-394, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31535386
11.
Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities.
Clin Exp Dermatol
; 45(5): 654-657, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32212272
12.
Genetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations.
Clin Exp Dermatol
; 44(7): 814-817, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30815890