Bochra Ben Rhouma

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

F. Fakhfakh, M. Hachicha, L. Keskes, 2016, Biochemical and biophysical research communications.

Cytogenetic monitoring of hospital staff exposed to ionizing radiation: optimize protocol considering DNA repair genes variability

Ghada Ben Salah, H. Kamoun, M. Masmoudi, 2017, International journal of radiation biology.

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

S. Wells, H. Clevers, R. Burdine, 2018, Proceedings of the National Academy of Sciences.

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome

H. Kamoun, L. Keskes, Siwar Baklouti, 2016, Hormone Research in Paediatrics.

A duplex polymerase chain reaction‐restriction fragment length polymorphism for rapid screening of methylenetetrahydrofolate reductase gene variants: Genotyping in acute leukemia

T. Rebai, L. Keskes, N. Bouayed, 2018, Journal of clinical laboratory analysis.

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.

N. Charfi, M. Abid, F. Fakhfakh, 2013, The journal of sexual medicine.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

David K. Wright, A. Sinclair, P. Kwan, 2023, Nature communications.