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1.
Development of a custom next-generation sequencing panel for the determination of bladder cancer risk in a Tunisian cohort.
Mol Biol Rep
; 49(2): 1233-1258, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34854013
2.
Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.
Herz
; 46(Suppl 1): 94-102, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31970460
3.
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.
J Hum Genet
; 65(4): 397-410, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31911611
4.
Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.
J Transl Med
; 17(1): 212, 2019 06 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-31248416
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31098807
6.
Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.
BMC Med Genet
; 18(1): 70, 2017 07 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28683740
7.
Correction to: Development of a custom next-generation sequencing panel for the determination of bladder cancer risk in a Tunisian cohort.
Mol Biol Rep
; 49(2): 1259, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34977990
8.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
; 15: 1384094, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38711914
9.
Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.
Front Aging Neurosci
; 15: 1114810, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37342358
10.
The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes.
Front Endocrinol (Lausanne)
; 14: 1293124, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38192426
11.
Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.
Front Genet
; 14: 1224284, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38162681
12.
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.
Front Genet
; 14: 1259826, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38283147
13.
PHINDaccess Hackathons for COVID-19 and Host-Pathogen Interaction: Lessons Learned and Recommendations for Low- and Middle-Income Countries.
Biomed Res Int
; 2023: 6638714, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37854792
14.
Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis.
Diabetol Metab Syndr
; 14(1): 25, 2022 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35109885
15.
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Biosci Rep
; 42(9)2022 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36093993
16.
A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.
NPJ Genom Med
; 6(1): 3, 2021 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33420067
17.
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.
Front Genet
; 12: 664963, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34691137
18.
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
PLoS One
; 16(10): e0258777, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34669720
19.
Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.
PLoS One
; 16(1): e0245362, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33503040
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34614013