Boudour Khabou

Sfax, Tunisia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Rapidly progressive cirrhosis and portal hypertension in a Tunisian child with PFIC5 due to a novel homozygous NR1H4 frameshift mutation.

Rapidly progressive cirrhosis and portal hypertension in a Tunisian child with PFIC5 due to a novel homozygous NR1H4 frameshift mutation.

Journal: Clinics and research in hepatology and gastroenterology

Published: March 31, 2026

Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.

Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 30, 2025

Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.

Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.

Journal: Journal of human genetics

Published: January 14, 2025

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

Journal: Journal of human genetics

Published: May 20, 2024

Exploring the role of vitamin D-VDR pathway in pemphigus foliaceous: a novel perspective on disease pathogenesis.

Exploring the role of vitamin D-VDR pathway in pemphigus foliaceous: a novel perspective on disease pathogenesis.

Journal: Archives of dermatological research

Published: May 12, 2024

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

Journal: Journal of human genetics

Published: March 05, 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.

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.

Journal: Metabolic brain disease

Published: October 31, 2023

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

miRNA implication in the pathogenesis and the outcome of Tunisian endemic pemphigus foliaceus.

miRNA implication in the pathogenesis and the outcome of Tunisian endemic pemphigus foliaceus.

Journal: Experimental dermatology

Published: November 30, 2022

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 28, 2020

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 04, 2019

Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD.

Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD.

Journal: Journal of molecular neuroscience : MN

Published: April 24, 2018

Showing 1-12 of 18

Last Updated: 09/26/2026