L. Sfaihi

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

Alessandra Pangrazio, Michael Pusch, Elena Caldana et al. · Human Mutation · 2009 · 84 citations · Full text

Febrile seizures: an epidemiological and outcome study of 482 cases

L. Sfaihi, Ines Maaloul, Sana Kmiha et al. · Child s Nervous System · 2012 · 49 citations

Pediatrics, Febrile Seizures

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome

Fakhri Kallabi, Neila Belghuith, Hajer Aloulou et al. · Archives of Medical Research · 2016 · 27 citations

Allelic Variant, Mendelian Disorder, Genetic Disorder +12

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

Cécile Martel, Michelle Mollin, Sylvain Beaumel et al. · Journal of Clinical Immunology · 2012 · 21 citations

Genetic Analysis, Autoimmune Disease, Connective Tissue Disease +10

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

Rahma Felhi, L. Sfaihi, Majida Charif et al. · Clinica Chimica Acta · 2018 · 21 citations

Next Generation, Mendelian Disorder, Ophthalmology +11