Ilhem Charfedine

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Zubair M. Ahmed, Saber Masmoudi, Ersan Kalay et al. · Nature Genetics · 2008 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

Saber Masmoudi, Ilhem Charfedine, Mounira Hmani‐Aifa et al. · American Journal of Medical Genetics · 2000 · 72 citations

Medicine, Genetics, Molecular Genetics +17

<i>TMC1</i> but Not <i>TMC2</i> Is Responsible for Autosomal Recessive Nonsyndromic Hearing Impairment in Tunisian Families

Abdelaziz Tlili, Imen Ben Rebeh, Houria Dhouib et al. · Audiology and Neurotology · 2008 · 59 citations

Life Sciences, Genetics, Molecular Genetics +16

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss

Abdelaziz Tlili, Ilhem Charfedine, Imed Lahmar et al. · Human Mutation · 2005 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Novel Autosomal Recessive Non-Syndromic Deafness Locus, <i>DFNB66</i>, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family

Abdelaziz Tlili, Minna Männikkö, Ilhem Charfedine et al. · Human Heredity · 2005 · 28 citations

Life Sciences, Genetics, Molecular Genetics +16