Faouzi Mâazoul

A Homozygous Splice Mutation in the<i>HSF4</i>Gene Is Associated with an Autosomal Recessive Congenital Cataract

Nizar Smaoui, O. Beltaief, Sonia Benhamed et al. · Investigative Ophthalmology & Visual Science · 2004 · 99 citations

Molecular Genetic Analysis of Tunisian Patients with a Classic Form of 21-Hydroxylase Deficiency: Identification of Four Novel Mutations and High Prevalence of Q318X Mutation

Maher Kharrat, Véronique Tardy, Ridha Mrad et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 88 citations

Mendelian Disorder, Congenital Adrenal Hyperplasia, Cyp21 Active Gene +14

A novel <i>UBE3A</i> truncating mutation in large Tunisian Angelman syndrome pedigree

Leila Abaied, Médiha Trabelsi, M Chaâbouni et al. · American Journal of Medical Genetics Part A · 2009 · 77 citations

Screening of the Eight BBS Genes in Tunisian Families: No Evidence of Triallelism

Nizar Smaoui, Myriam Châabouni, Yuri V. Sergeev et al. · Investigative Ophthalmology & Visual Science · 2006 · 59 citations · Full text

MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

Habiba Chaâbouni, Mohamed Ksantini, Ridha Mrad et al. · Seminars in Arthritis and Rheumatism · 2007 · 39 citations

Diagnostic Virology, Mendelian Disorder, Pathogenesis +7