Detalhe da pesquisa
1.
Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.
Hum Genomics
; 15(1): 63, 2021 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657628
2.
PHACES syndrome associated with carcinoid endobronchial tumor.
Pediatr Radiol
; 44(5): 621-4, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24337788
3.
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
J Hum Genet
; 57(3): 170-5, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22089644
4.
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.
BMC Med Genomics
; 15(1): 165, 2022 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883075
5.
[Triple negative breast cancer: clinical, pathological and molecular characteristics]. / Cancer du sein triple négatif: particularités anatomo-cliniques et moléculaires.
Pan Afr Med J
; 42: 30, 2022.
Artigo
em Francês
| MEDLINE | ID: mdl-35910055
6.
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
Eur J Paediatr Neurol
; 16(2): 167-74, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21821450
7.
Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.
J Invest Dermatol
; 135(1): 304-308, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25050600