Lista de obras - Mariem Ben Rekaya - Dominio Público Uruguay

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

artículo científico publicado en 2014

A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci

scientific article published on 29 December 2018

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

artículo científico publicado en 2011

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

artículo científico publicado en 2015

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

artículo científico publicado en 2015

Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

artículo científico publicado en 2013

Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway

artículo científico publicado en 2019

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients

artículo científico publicado en 2010

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis

artículo científico publicado en 2009

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

scientific article published on 14 February 2019

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

artículo científico publicado en 2010

Oral Communication Abstracts of the 18th Pan Arab Cancer Congress. TUNISIA. April 19-21, 2018

scientific article published on 01 April 2018

Specific aspects of consanguinity: some examples from the Tunisian population