CT
Chahnez Triki

Publications (4)

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy
Article scientifique · 2023
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region
Article scientifique · 2023
A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
Article scientifique · 2021
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
Article scientifique · 2019

Domaines principaux

Sciences de la vie et biotechnologies3 Sciences de la santé1

Statistiques

Consultations13
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