Fatma Kammoun

Molecular-Clinical Correlation in a Family With a Novel Heteroplasmic Leigh Syndrome Missense Mutation in the Mitochondrial Cytochrome c Oxidase III Gene

Emna Mkaouar‐Rebai, Emna Ellouze, Imen Chamkha et al. · Journal of Child Neurology · 2010 · 28 citations

Genetics, Molecular Biology, Pathology +20

A De Novo Mutation in the Adenosine Triphosphatase (ATPase) 8 Gene in a Patient With Mitochondrial Disorder

Emna Mkaouar‐Rebai, Fatma Kammoun, Imen Chamkha et al. · Journal of Child Neurology · 2010 · 26 citations

Adenosine Triphosphatase, Neurological Disorder, Genetics +20

<scp>SRD5A3‐CDG</scp>:<scp>3D</scp>structure modeling, clinical spectrum, and<scp>computer‐based</scp>dysmorphic facial recognition

Ikhlas Ben Ayed, Wael Ouarda, Fakher Frikha et al. · American Journal of Medical Genetics Part A · 2021 · 21 citations

Engineering, Human Growth, Genetics +28

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome

Emna Mkaouar‐Rebai, Imen Chamkha, Fatma Kammoun et al. · Molecular Genetics and Metabolism · 2009 · 17 citations

Mt-tw Gene, Mendelian Disorder, Genetic Disorder +7

Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero

Fatma Kammoun, A Tanguy, Odile Boesplug‐Tanguy et al. · American Journal of Medical Genetics Part A · 2003 · 17 citations