Fatma Abdelhedi

Sfax, Tunisia

Last Updated: 09/26/2026

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Found 16 publications

One genotype with a myriad of phenotypes: A family with multiple endocrine neoplasia.

One genotype with a myriad of phenotypes: A family with multiple endocrine neoplasia.

Journal: Endocrine regulations

Published: March 31, 2026

Gut Microbiota Composition and Modulation in Developmental and Epileptic Encephalopathies.

Gut Microbiota Composition and Modulation in Developmental and Epileptic Encephalopathies.

Journal: The European journal of neuroscience

Published: June 03, 2025

Angiotensin-converting-enzyme gene insertion-deletion polymorphism and renin angiotensin aldosterone system activity in different phenotypes of polycystic ovary syndrome.

Angiotensin-converting-enzyme gene insertion-deletion polymorphism and renin angiotensin aldosterone system activity in different phenotypes of polycystic ovary syndrome.

Journal: Heliyon

Published: August 19, 2024

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Journal: Andrology

Published: May 04, 2022

An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.

An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.

Journal: European journal of medical genetics

Published: November 15, 2021

Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.

Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.

Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

Published: June 14, 2021

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.

Journal: Molecular genetics & genomic medicine

Published: June 13, 2021

SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

Journal: American journal of medical genetics. Part A

Published: July 23, 2020

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.

Journal: Journal of assisted reproduction and genetics

Published: August 15, 2018

Dubin-Johnson syndrome in Tunisia: Spectrum of a rare disease.

Dubin-Johnson syndrome in Tunisia: Spectrum of a rare disease.

Journal: Presse medicale (Paris, France : 1983)

Published: August 06, 2018

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

Journal: Biochemical and biophysical research communications

Published: March 09, 2018

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

Journal: American journal of medical genetics. Part A

Published: August 24, 2015

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Last Updated: 09/26/2026