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authFullName_s : Hamza Dallali
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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

Cherine Charfeddine , Hamza Dallali , Ghaith Abdessalem , Kais Ghedira , Yosr Hamdi , et al.
Journal of Human Genetics, 2020, 65 (4), pp.397 - 410. ⟨10.1038/s10038-019-0711-4⟩
Journal articles pasteur-03261809v1

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

Mariem Ben Rekaya , Chokri Naouali , Olfa Messaoud , Meriem Jones , Yosra Bouyacoub , et al.
Journal of Dermatological Science, 2018, 89 (2), pp.172--180. ⟨10.1016/j.jdermsci.2017.10.015⟩
Journal articles hal-01876284v1
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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Abir Ben Haj Ali , Ahlem Amouri , Marwa Sayeb , Saloua Makni , Wajih Hammami , et al.
Molecular Genetics & Genomic Medicine, 2019, 7 (7), pp.e00694. ⟨10.1002/mgg3.694⟩
Journal articles pasteur-03263632v1
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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