NT
Néji Tebib

Publications (16)

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
Article scientifique · 2023
Identification of mutations that causes glucose-6-phosphate transporter defect in Tunisian patients with glycogenosis type 1b
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
Article scientifique · 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
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
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 · 2020
The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Article scientifique · 2019
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide withRAF1S259Y neomutation
Article scientifique · 2019
Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
Article scientifique · 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 santé15 Sciences de la vie et biotechnologies1

Statistiques

Consultations58
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