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authFullName_s : Rahma Mkaouar
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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

Rahma Mkaouar , Lamia Cherif Ben Abdallah , Chokri Naouali , Saida Lahbib , Zinet Turki , et al.
Frontiers in Genetics, 2021, 12, pp.665174. ⟨10.3389/fgene.2021.665174⟩
Journal articles pasteur-03521812v1

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

Saida Lahbib , Claire S. Leblond , Mariem Hamza , Béatrice Regnault , Laure Lemee , et al.
Journal of Applied Genetics, 2018, ⟨10.1007/s13353-018-0472-3⟩
Journal articles pasteur-01948341v1
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar , Zied Riahi , Cherine Charfeddine , Imen Chelly , Hela Boudabbous , et al.
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
Journal articles pasteur-04072687v1

A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene

Marwa Sayeb , Zied Riahi , Nadia Laroussi , Crystel Bonnet , Lilia Romdhane , et al.
International Journal of Dermatology, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
Journal articles pasteur-03219630v1