Mayssa Abdelwahed

A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome

R. Touraine, H. Kamoun, L. Keskes-Ammar, 2019, IUBMB life.

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

H. Kamoun, S. Bouomrani, Mouna Dey, 2018, Gene.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

N. Miled, S. Aifa, H. Keskes, 2020, BioMed Research International.

A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.

Y. Morel, L. Michel-Calemard, H. Kamoun, 2019, The international journal of biochemistry & cell biology.

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

V. Benoit, H. Kamoun, M. Hachicha, 2019, Acta clinica Belgica.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Tunisia: from molecular genetics to the development of prognostic tools

H. Kamoun, S. Bouomrani, Mouna Dey, 2022, Gene.

Detection of a novel mutation in a Tunisian child with polycystic kidney disease

H. Kamoun, Mouna Dey, Asma Ahmed, 2020, IUBMB life.