Maâzoul, Faouzi

Top Publications

Top Publications Authored or Co-Authored by "Maâzoul, Faouzi"

• A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract

  Investigative Ophthalmology and Visual Science, Volume 45, No. 8, Year 2004, Citations 109
• 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

  Journal of Clinical Endocrinology and Metabolism, Volume 89, No. 1, Year 2004, Citations 89
• Screening of the eight BBS genes in Tunisian families: No evidence of triallelism

  Investigative Ophthalmology and Visual Science, Volume 47, No. 8, Year 2006, Citations 64
• Prenatal diagnosis of chromosome disorders in Tunisian population

  Annales de Genetique, Volume 44, No. 2, Year 2001, Citations 45
• MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

  Seminars in Arthritis and Rheumatism, Volume 36, No. 6, Year 2007, Citations 38