Rahma Mkaouar

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

S. Abdelhak, K. McElreavey, O. Messaoud, 2021, Frontiers in Genetics.

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

S. Abdelhak, A. Mosbah, N. Laroussi, 2021, PloS one.

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene

C. Petit, S. Abdelhak, L. Romdhane, 2019, International journal of dermatology.

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

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

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

T. Bourgeron, S. Abdelhak, B. Regnault, 2018, Journal of Applied 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.

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

T. Bourgeron, S. Abdelhak, B. Regnault, 2018, Journal of Applied Genetics.

Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene

S. Abdelhak, O. Messaoud, Ghaith Abdessalem, 2019, International journal of dermatology.