Detalhe da pesquisa
1.
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.
Proc Natl Acad Sci U S A
; 115(21): 5474-5479, 2018 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735715
2.
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
IUBMB Life
; 71(12): 1937-1945, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31317616
3.
A duplex polymerase chain reaction-restriction fragment length polymorphism for rapid screening of methylenetetrahydrofolate reductase gene variants: Genotyping in acute leukemia.
J Clin Lab Anal
; 32(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374953
4.
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
5.
A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.
J Sex Med
; 10(10): 2586-9, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22594312
6.
Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
J Steroid Biochem Mol Biol
; 227: 106235, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563763
7.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Nat Commun
; 14(1): 3403, 2023 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296101
8.
Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD.
Gene
; 639: 18-26, 2018 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28987347
9.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Nat Commun
; 14(1): 3566, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37322043
10.
Cytogenetic monitoring of hospital staff exposed to ionizing radiation: optimize protocol considering DNA repair genes variability.
Int J Radiat Biol
; 93(11): 1283-1288, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28880740
11.
Novel cases of Tunisian patients with mutations in the gene encoding 17ß-hydroxysteroid dehydrogenase type 3 and a founder effect.
J Steroid Biochem Mol Biol
; 165(Pt A): 86-94, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26956191
12.
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
Horm Res Paediatr
; 86(2): 90-93, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27414811