R. Mrad

Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry

P. Bosma, K. Strauss, F. Rahim, 2022, Liver international : official journal of the International Association for the Study of the Liver.

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

S. Abdelhak, L. Romdhane, O. Messaoud, 2021, Genes.

A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci

S. Abdelhak, A. Benammar Elgaaied, L. Romdhane, 2018, BMC Cancer.

3M syndrome: A Tunisian seven-cases series.

I. Ouertani, F. Maazoul, R. Mrad, 2022, European journal of medical genetics.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

C. Petit, S. Abdelhak, O. Messaoud, 2021, PloS one.

Pathologic complete response to neoadjuvant imatinib of a gastric stromal tumor with concomitant mutations in KIT : A case report and literature review

M. B. rekaya, S. Rammeh, E. Harigua-Souiai, 2023, Clinical case reports.

Phenotype Spectrum in Tunisian Population with NPHP1 Deletion

R. Meddeb, Y. Hammi, T. Gargah, 2023, Indian Journal of Nephrology.

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

M. Ben Rekaya, S. Rammeh, N. Belguith, 2023, Frontiers in oncology.

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree

H. Chaabouni, M. Kharrat, N. Tebib, 2010, American journal of medical genetics. Part A.

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT)

L. Boughamoura, L. Kraoua, K. Monastiri, 2023, Journal of pediatric endocrinology & metabolism : JPEM.