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.
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.
J Bone Miner Metab
; 28(1): 111-5, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19655082
4.
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.
Cancer Genet
; 240: 45-53, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31739127
5.
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