List of works by Mariem Chargui

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy

scientific article

Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population.

scientific article published on 14 June 2017

Association of genetic variants in the FTO gene with metabolic syndrome: A case-control study in the Tunisian population.

scientific article

Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome

scientific article

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

scientific article

Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population

scientific article

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

scientific article published on 17 January 2019

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene

scientific article published on 19 July 2019

H syndrome: Clinical, histological and genetic investigation in Tunisian patients

scientific article published on 29 May 2018

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

scientific article published on 24 March 2017

Mitochondrial DNA structure of an isolated Tunisian Berber population and its relationship with Mediterranean populations

scientific article published in February 2018

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

scientific article published on 2 November 2017

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

scientific article published in 2014

Paulina is supported by:

About Paulina

Help