Hela Boudabous

Tunis, 1068, Tunisia

Last Updated: 09/26/2026

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Found 24 publications

Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort.

Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort.

Journal: Mitochondrion

Published: March 02, 2026

Mucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression.

Mucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression.

Journal: Molecular biology reports

Published: January 07, 2026

Bone involvement in Gaucher disease: Data from a North African registry.

Bone involvement in Gaucher disease: Data from a North African registry.

Journal: Reumatologia clinica

Published: July 17, 2025

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Journal: Clinical genetics

Published: January 03, 2025

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.

Journal: Molecular genetics and metabolism reports

Published: October 15, 2024

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Journal: La Tunisie medicale

Published: January 21, 2024

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

Journal: BMC genomics

Published: November 09, 2023

Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Journal: BMC medical genomics

Published: December 16, 2021

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Journal: Diagnostic pathology

Published: October 27, 2021

Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: May 21, 2021

Large-scale screening of lipase acid deficiency in at risk population.

Large-scale screening of lipase acid deficiency in at risk population.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: February 26, 2021

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Journal: BMC medical genomics

Published: February 09, 2021

Showing 1-12 of 24

Last Updated: 09/26/2026