Rahma Felhi

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

Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family

Marwa Maalej, Amel Tej, Jihène Bouguila et al. · Biochemical and Biophysical Research Communications · 2017 · 12 citations

Mendelian Disorder, Mitochondrial Function, Suclg1 Mutation +12

Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene

Rahma Felhi, Emna Mkaouar‐Rebai, L. Sfaihi et al. · Biochemical and Biophysical Research Communications · 2016 · 11 citations

Mitochondrial Myopathy, Mt-atp6 Gene, Mutational Analysis +9

Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa

Fakhri Kallabi, Imen Ben Rebeh, Rahma Felhi et al. · Hormone Research in Paediatrics · 2015 · 10 citations