R. Sakka

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation

R. Boussoffara, R. M’rad, H. Ben Cheikh, 2018, Pediatric blood & cancer.

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

S. Abdelhak, R. Kefi, Hamza Dallali, 2019, Molecular Biology Reports.

Sanjad-Sakati syndrome in a Tunisian child.

M. Gribaa, N. Ghedira, K. Monastiri, 2015, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mandibuloacral dysplasia type A in five tunisian patients

I. Hannachi, H. Marmouch, K. Monastiri, 2021 .

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

J. Desvignes, N. Lévy, S. Olschwang, 2018, BMC Pediatrics.

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

S. Abdelhak, R. Kefi, Hamza Dallali, 2019, Molecular Biology Reports.