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A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene

scientific article published on 25 April 2019

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

artículo científico publicado en 2014

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families

artículo científico publicado en 2013

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome

artículo científico

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis

artículo científico publicado en 2021

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

artículo científico publicado en 2017

Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

artículo científico publicado en 2013

Non alcoholic steatohepatitis: a multifactorial, frequent, paucysymptomatic liver disease with a fibrotic outcome

artículo científico publicado en 2002

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region

artículo científico publicado en 2013

The first Mal de Meleda case in Libya: identification of a SLURP1 mutation

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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