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1.
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Pediatr Dermatol
; 40(6): 1021-1027, 2023.
Article
in English
| MEDLINE | ID: mdl-37827535
2.
A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies.
J Clin Immunol
; 42(2): 394-403, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34839430
3.
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Exp Dermatol
; 30(9): 1290-1297, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33786896
4.
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Am J Hum Genet
; 91(1): 163-70, 2012 Jul 13.
Article
in English
| MEDLINE | ID: mdl-22703878
5.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Am J Hum Genet
; 91(2): 337-42, 2012 Aug 10.
Article
in English
| MEDLINE | ID: mdl-22840363
6.
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
Am J Hum Genet
; 88(4): 482-7, 2011 Apr 08.
Article
in English
| MEDLINE | ID: mdl-21439540
7.
Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.
Dermatology
; 228(2): 183-8, 2014.
Article
in English
| MEDLINE | ID: mdl-24577329
8.
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
Exp Dermatol
; 22(4): 251-4, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23528209
9.
From biorepositories to data repositories: Open-access resources accelerate early R&D and validation of equitable diagnostic tools.
PLOS Glob Public Health
; 3(8): e0002044, 2023.
Article
in English
| MEDLINE | ID: mdl-37582061
10.
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
Arch Dermatol Res
; 304(3): 251-5, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22146835
11.
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.
J Invest Dermatol
; 132(7): 1798-805, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22437316
12.
A mutation in TP63 causing a mild ectodermal dysplasia phenotype.
J Invest Dermatol
; 134(8): 2277-2280, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24675753
13.
Semidominant inheritance in epidermolytic ichthyosis.
J Invest Dermatol
; 133(11): 2626-2628, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23604102
14.
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.
J Invest Dermatol
; 131(3): 779-81, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21191406
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