Detalhe da pesquisa
1.
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
Pediatr Nephrol
; 38(1): 119-129, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445972
2.
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
Mol Biol Rep
; 46(4): 4185-4193, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31098807
3.
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.
Liver Int
; 42(7): 1593-1604, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35274801
4.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
; 15: 1384094, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711914
5.
Pathologic complete response to neoadjuvant imatinib of a gastric stromal tumor with concomitant mutations in KIT: A case report and literature review.
Clin Case Rep
; 11(6): e7463, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37305871
6.
Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.
J Clin Neurol
; 18(2): 214-222, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196747
7.
In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome.
J Steroid Biochem Mol Biol
; 208: 105834, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33548461
8.
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
PLoS One
; 16(10): e0258202, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614013
9.
Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.
Steroids
; 152: 108489, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31499074
10.
WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
Eur J Med Genet
; 62(9): 103550, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315938
11.
Coexistence of Ichthyosis, Yellowish Keratoderma, and Neurologic Manifestations: Think About Sjogren-Larsson Syndrome.
Skinmed
; 21(6): 457-458, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38051253
12.
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
Int J Pediatr Otorhinolaryngol
; 103: 14-19, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29224756
13.
GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
Int J Pediatr Otorhinolaryngol
; 77(5): 714-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434199
14.
Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.
Eur J Med Genet
; 56(1): 13-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23142735