Ben Jemâa, Lamia

Top Publications

Top Publications Authored or Co-Authored by "Ben Jemâa, Lamia"

• 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
• Prenatal diagnosis of chromosome disorders in Tunisian population

  Annales de Genetique, Volume 44, No. 2, Year 2001, Citations 45
• Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

  Journal of Human Genetics, Volume 59, No. 4, Year 2014, Citations 45
• A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

  European Journal of Human Genetics, Volume 16, No. 11, Year 2008, Citations 40
• MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

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