Thouraya Kamoun
6PUBLICATIONS
45CO-AUTHORS

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Publications (6)
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|Feb 16, 2024
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.Marwa Maalej, Lamia Sfaihi, Olfa-Alila Fersi
|Sep 01, 2023
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.Ameni Aguech, Lamia Sfaihi, Olfa Alila-Fersi
|Aug 29, 2023
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.Rahma Felhi, Lamia Sfaihi, Majida Charif
|Apr 14, 2021
Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell TumourHager Barakizou, Souha Gannouni, Thouraya Kamoun
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Frequent Collaborators
3 joint publications
Lamia Sfaihi
2 joint publications
Hager Barakizou
2 joint publications
Souha Gannouni
2 joint publications
Fernanda Amary
2 joint publications
Zilla Huma
2 joint publications
Anne-Laure Todeschini
2 joint publications
Reiner Veitia
2 joint publications
Malcolm Donaldson
2 joint publications
Olfa-Alila Fersi
2 joint publications
Abdelaziz Tlili