Ilhem Ben Charfeddine

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Ahmed Khattab, Shozeb Haider, Ameet Kumar et al. · Proceedings of the National Academy of Sciences · 2017 · 151 citations · Full text

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

Moez Gribaa, M. Younès, Yosra Bouyacoub et al. · Journal of Bone and Mineral Metabolism · 2009 · 57 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

Abdelbasset Amara, Labiba Adala, Ilhem Ben Charfeddine et al. · European Journal of Paediatric Neurology · 2011 · 38 citations

Genetic Disorder, Medicine, Genetics +9

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

A. Mili, Ilhem Ben Charfeddine, Ons Mamaï et al. · Journal of Human Genetics · 2011 · 27 citations · Full text

Glycoproteomics, Biochemistry, Natural Sciences +11

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms

Ilhem Ben Charfeddine, Felix G. Riepe, Éric Clauser et al. · Gene · 2012 · 27 citations

Mendelian Disorder, Genetic Disorder, Genetics +8