Detalhe da pesquisa
1.
Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series.
Eur J Oral Sci
; 126(1): 24-32, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29114927
2.
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
3.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Am J Hum Genet
; 87(3): 410-7, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797687
4.
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
Brain
; 133(Pt 8): 2439-47, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20826435
5.
Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Mol Genet Genomic Med
; 9(10): e1796, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510813
6.
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.
Acta Diabetol
; 56(3): 301-307, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315371
7.
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
J Invest Dermatol
; 138(2): 291-300, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28964717
8.
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.
Nat Med
; 24(8): 1204-1215, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967352
9.
Molecular Diagnostic and Prognostic Subtyping of Gliomas in Tunisian Population.
Mol Neurobiol
; 54(4): 2381-2394, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26957305
10.
Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.
Arch Oral Biol
; 71: 110-116, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27491081
11.
Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor.
Appl Transl Genom
; 4: 1-3, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937341
12.
Amelanotic melanoma arising in an area of SLURP-1 mutated Mal de Meleda.
Int J Dermatol
; 58(8): 966-968, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30246339
13.
A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata.
JAAD Case Rep
; 4(6): 602-605, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30003128