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authFullName_s : Sami Bouchoucha
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Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings

Asma Chikhaoui , Ichraf Kraoua , Nadège Calmels , Sami Bouchoucha , Cathy Obringer , et al.
2022
Preprints, Working Papers, ... pasteur-03548783v1
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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
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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

Khouloud Zayoud , Ichraf Kraoua , Asma Chikhaoui , Nadège Calmels , Sami Bouchoucha , et al.
Genes, 2021, 12 (12), pp.1922. ⟨10.3390/genes12121922⟩
Journal articles hal-03477990v1