Bahri Mahjoub
Mahdia, Tunisia
Last Updated: 09/26/2026
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Found 12 publications
A novel truncated mutation in folate receptor α (FRα) affecting its glycosylation and affinity for folate in a consanguineous family with progressive encephalopathy: follow up and treatment improvement.
Journal: Molecular biology reports
Published: April 28, 2025
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
Lysinuric protein intolerance associated Hemophagocytic Lymphohistiocytosis revealed by bone marrow atypical hemophagocytosis.
Journal: La Tunisie medicale
Published: October 07, 2024
Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment.
Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
Published: May 27, 2023
Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 15, 2022
Parental self-medication with antibiotics in a Tunisian pediatric center.
Journal: Therapie
Published: July 26, 2021
Kawasaki disease shock syndrome complicated by coronary aneurysms: a case report.
Journal: The Pan African medical journal
Published: December 27, 2020
Orbital complication of acute ethmoiditis: A Tunisian paediatric cross sectional study.
Journal: American journal of otolaryngology
Published: October 05, 2019
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 24, 2018
Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.
Journal: Pediatric blood & cancer
Published: December 28, 2017
Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization.
Journal: Haemophilia : the official journal of the World Federation of Hemophilia
Published: April 10, 2017
Neonatal expression of beta-thalassemia trait associated with hereditary spherocytosis in two monozygotic twins
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: November 06, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026