HB
Hela Boudabous

Publications (13)

Case Report: Primary bile acid synthesis defect: first cases series from Tunisia
Article scientifique · 2026
Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the p.P533R Mutation in the Maghreb Population
Article scientifique · 2023
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
Article scientifique · 2022
Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
Erratum · 2021
Molecular Characterization of CNTS Mutations in Tunisian Patients with Ocular Cystinosis
Article scientifique · 2021
Ophthalmic and Genetics Profiles of Cystinosis in Tunisian Patients
Article scientifique · 2021
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
Article scientifique · 2021
Fucosidosis in Tunisians patients: Mutational analysis and homology-based modeling of FUCA1 enzyme
Article scientifique · 2021
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Article scientifique · 2020
The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Article scientifique · 2019
Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
Erratum · 2018
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Article scientifique · 2018
Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
Article scientifique · 2017

Domaines principaux

Sciences de la santé13

Statistiques

Consultations44
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