Detalhe da pesquisa
1.
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
2.
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11ß hydroxylase deficiency in a Tunisian family.
Gen Comp Endocrinol
; 175(3): 514-8, 2012 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22210247
3.
[Evaluation of a fluorimetric for determining the activity of amylo-1,6-glucosidase in leukocytes for confirming the diagnosis of glycogen storage disease type III]. / Évaluation d'une technique fluorimétrique pour la détermination de l'activité de l'amylo-1,6-glucosidase leucocytaire pour la confirmation du diagnostic des glycogénoses de type III.
Ann Biol Clin (Paris)
; 69(1): 41-5, 2011.
Artigo
em Francês
| MEDLINE | ID: mdl-21463994
4.
Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment.
Iran J Public Health
; 46(12): 1704-1711, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29259946
5.
Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
Ann Biol Clin (Paris)
; 73(4): 469-73, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411914
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.
High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
Ann Biol Clin (Paris)
; 70(6): 648-50, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23207808
8.
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