Detalhe da pesquisa
1.
Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation.
Mol Biol Rep
; 48(5): 4373-4382, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089464
2.
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Hum Mutat
; 41(1): 115-121, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31469207
3.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319008
4.
Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.
J Pediatr Hematol Oncol
; 42(4): 310-312, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31318819
5.
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Biochem Biophys Res Commun
; 497(4): 1043-1048, 2018 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29481804
6.
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Biochem Biophys Res Commun
; 499(3): 563-569, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29596833
7.
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Pediatr Nephrol
; 33(3): 473-483, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29058154
8.
Hypoparathyroidism in children: a study of eight cases.
Tunis Med
; 96(8-9): 472-476, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430523
9.
Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant.
J Pediatr Hematol Oncol
; 39(2): 141-142, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28060111
10.
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.
Biochem Biophys Res Commun
; 473(1): 61-66, 2016 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26993169
11.
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
Biochem Biophys Res Commun
; 473(2): 578-85, 2016 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033601
12.
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.
Biochem Biophys Res Commun
; 474(4): 702-708, 2016 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27155156
13.
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
J Clin Immunol
; 35(8): 745-53, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26464197
14.
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Eur J Pediatr
; 174(11): 1491-501, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25968604
15.
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Fetal Pediatr Pathol
; 34(1): 18-20, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25166299
16.
Neonatal purulent meningitis in southern Tunisia: Epidemiology, bacteriology, risk factors and prognosis.
Fetal Pediatr Pathol
; 34(4): 233-40, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083897
17.
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
Tunis Med
; 93(8-9): 511-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26815515
18.
Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate.
Cardiol Young
; 24(5): 866-71, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24103727
19.
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
Fetal Pediatr Pathol
; 33(4): 234-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24840153
20.
[Cerebral imaging in epileptic children: study of 140 cases]. / Magerie cérébrale de l'épilepsie de lenfant. Etude de 140 observations.
Tunis Med
; 92(1): 24-8, 2014 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-24879166