Fakhri Kallabi

Sfax, Tunisia

Last Updated: 09/26/2026

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Found 19 publications

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

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Journal: Annals of human genetics

Published: July 14, 2023

Characterisation of the Paenarthrobacter nicotinovorans ATCC 49919 genome and identification of several strains harbouring a highly syntenic nic-genes cluster.

Characterisation of the Paenarthrobacter nicotinovorans ATCC 49919 genome and identification of several strains harbouring a highly syntenic nic-genes cluster.

Journal: BMC genomics

Published: April 21, 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

Complete Genome Sequences of Two Closely Related Paenarthrobacter nicotinovorans Strains.

Complete Genome Sequences of Two Closely Related Paenarthrobacter nicotinovorans Strains.

Journal: Microbiology resource announcements

Published: May 10, 2022

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.

Journal: Biochemistry and cell biology = Biochimie et biologie cellulaire

Published: June 02, 2016

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.

Journal: Hormone research in paediatrics

Published: February 05, 2016

Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.

Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.

Journal: Journal of diabetes and its complications

Published: January 23, 2016

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.

Journal: The Journal of steroid biochemistry and molecular biology

Published: December 08, 2015

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 11, 2015

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

Journal: Archives of medical research

Published: October 09, 2015

Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.

Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.

Journal: Hormone research in paediatrics

Published: September 04, 2015

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Last Updated: 09/26/2026