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Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings2022
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 impairmentPLoS 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 BGenes, 2021, 12 (12), pp.1922. ⟨10.3390/genes12121922⟩
Journal articles
hal-03477990v1
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