Detalhe da pesquisa
1.
The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach.
Genomics
; 112(6): 4232-4241, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32650097
2.
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.
J Hum Genet
; 65(4): 397-410, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31911611
3.
Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families.
Front Genet
; 15: 1327894, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38313678
4.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
; 15: 1384094, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711914
5.
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
PLoS One
; 16(10): e0258777, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34669720
6.
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.
Genes (Basel)
; 12(11)2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828426
7.
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
PLoS One
; 16(10): e0258202, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614013
8.
Bathing Suit Ichthyosis.
Indian Pediatr
; 61(4): 397, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419281
9.
Clinical and genetic investigation of atrial septal defect with atrioventricular conduction defect in a large consanguineous Tunisian family.
Arch Med Res
; 39(4): 429-33, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18375255
10.
Immunohistological study of involucrin expression in Darier's disease skin.
J Cutan Pathol
; 35(7): 635-40, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18312435
11.
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
Biomed Res Int
; 2013: 206803, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24093092
12.
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
Gene
; 529(1): 45-9, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23954227
13.
Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.
Heart Lung
; 39(5): 432-6, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20561859
14.
The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
Int J Dermatol
; 54(12): 1426-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24738704
15.
Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.
J Med Case Rep
; 4: 108, 2010 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20406438
16.
Clinical and mutational heterogeneity of Darier disease in Tunisian families.
Arch Dermatol
; 145(6): 654-6, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19528419
17.
New mutations of Darier disease in Tunisian patients.
Arch Dermatol Res
; 301(8): 615-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19488774
18.
Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.
Arch Dermatol Res
; 300(7): 365-70, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18496702
19.
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.
J Hum Genet
; 51(10): 841-845, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16865292
20.
Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families.
J Dermatol Sci
; 54(1): 54-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19136236