Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Hypoparathyroidism in children: a study of eight cases.
Tunis Med
; 96(8-9): 472-476, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430523
5.
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
6.
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
7.
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
8.
Assessment of MYCN amplification status in Tunisian neuroblastoma: CISH and MLPA combining approach.
Tunis Med
; 93(8-9): 527-31, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26815518
9.
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
10.
[Primary immune thrombocytopenia in childhood: a regional study in the south of Tunisia]. / Thrombocytopénie immune primaire de L'Enfant: etude régionale dans le sud Tunisien.
Tunis Med
; 92(3): 219-23, 2014 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-24955969
11.
Clinical features and outcomes in patients with human immunodeficiency virus-negative, Castleman's disease: a single medical center study in Tunisia.
Rom J Intern Med
; 62(1): 20-32, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37948573
12.
Central retinal vein occlusion : an uncommon complication in sarcoidosis.
Rom J Intern Med
; 62(1): 82-87, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37851995
13.
[Primary immunodeficiency disorders in 51 cases]. / Les déficits immunitaires primitifs de l'enfant. Etude de 51 observations.
Tunis Med
; 91(1): 38-43, 2013 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-23404596
14.
Febrile seizures: an epidemiological and outcome study of 482 cases.
Childs Nerv Syst
; 28(10): 1779-84, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570169
15.
About a rare association: Guillain-Barré Syndrome and polymyositis.
Clin Case Rep
; 10(11): e6642, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447667
16.
Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.
Mol Genet Genomic Med
; 10(2): e1868, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997822
17.
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Diagn Pathol
; 17(1): 44, 2022 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524314
18.
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
Biochem Biophys Res Commun
; 404(1): 504-10, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21144833
19.
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions.
Biochem Biophys Res Commun
; 411(2): 381-6, 2011 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21741369
20.
[Bardet - Biedl syndrome in the child. A study of 11 cases]. / Le syndrome de Bardet - Biedl chez l'enfant. Etude de 11 observations.
Tunis Med
; 89(1): 31-6, 2011 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-21267825