Neila Belguith

Magida Boulila Street
Sfax, 3029, Tunisia

Last Updated: 09/26/2026

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Found 34 publications

Rare internal malignancies in xeroderma pigmentosum: A report of two cases from Tunisia and analysis of driver mutations.

Rare internal malignancies in xeroderma pigmentosum: A report of two cases from Tunisia and analysis of driver mutations.

Journal: Cancer pathogenesis and therapy

Published: November 09, 2025

Enriching African genome representation through the AGenDA project.

Enriching African genome representation through the AGenDA project.

Journal: Nature

Published: April 23, 2025

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Journal: Annales d'endocrinologie

Published: April 09, 2025

Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.

Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.

Journal: Gene

Published: February 03, 2024

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Journal: Nature communications

Published: June 15, 2023

Genome Tunisia Project: paving the way for precision medicine in North Africa.

Genome Tunisia Project: paving the way for precision medicine in North Africa.

Journal: Genome medicine

Published: May 02, 2023

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.

Journal: Frontiers in oncology

Published: March 29, 2023

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.

Journal: The Journal of steroid biochemistry and molecular biology

Published: November 19, 2022

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Journal: Nature communications

Published: April 03, 2022

Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.

Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.

Journal: Gene

Published: October 06, 2021

Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population.

Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population.

Journal: Clinical rheumatology

Published: October 02, 2021

Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.

Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.

Journal: BMC medical genomics

Published: July 03, 2021

Showing 1-12 of 34

Last Updated: 09/26/2026