Detalhe da pesquisa
1.
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
Hum Genet
; 141(3-4): 583-593, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34268600
2.
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Am J Med Genet A
; 185(4): 1081-1090, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33403770
3.
Correction to: Gene duplication and functional divergence of the zebrafish otospiralin genes.
Dev Genes Evol
; 230(1): 37, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31989242
4.
Gene duplication and functional divergence of the zebrafish otospiralin genes.
Dev Genes Evol
; 230(1): 27-36, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31838648
5.
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.
BMC Med Genet
; 21(1): 122, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493243
6.
Computational identification of new TKI as potential noncovalent reversible EGFRL858R/T790M inhibitors: VHTS, molecular docking, DFT study and molecular dynamic simulation.
J Biomol Struct Dyn
; : 1-18, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349947
7.
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy.
Epilepsia Open
; 2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867425
8.
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Front Neurol
; 14: 1092887, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36970549
9.
A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.
Int J Dev Neurosci
; 83(4): 383-395, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204304
10.
Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.
J Biomol Struct Dyn
; 40(21): 10940-10951, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34423747
11.
Evidence of SARS-CoV-2 symptomatic reinfection in four healthcare professionals from the same hospital despite the presence of antibodies.
Int J Infect Dis
; 117: 146-154, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017107
12.
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
13.
The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance.
Science
; 378(6615): eabq5358, 2022 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36108049
14.
SARS-CoV-2 tracking in Tunisia through next-generation sequencing: lessons for the future.
EuroMediterr J Environ Integr
; 6(2): 40, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824883
15.
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
Genet Test Mol Biomarkers
; 25(8): 528-539, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34406847
16.
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.
J Adv Res
; 31: 13-24, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194829
17.
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Mol Genet Genomic Med
; 9(11): e1811, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34549899
18.
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Eur J Med Genet
; 64(12): 104373, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737153
19.
A year of genomic surveillance reveals how the SARS-CoV-2 pandemic unfolded in Africa.
Science
; 374(6566): 423-431, 2021 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672751