Lilia Kraoua

Tunis, Tunisia

Last Updated: 09/26/2026

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Found 25 publications

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

Journal: Birth defects research

Published: September 19, 2025

A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.

A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.

Journal: Molecular genetics and metabolism

Published: August 06, 2025

Prevalence and Spectrum of Chromosomal Abnormalities in 1366 Infertile Tunisian Men: A retrospective observational study.

Prevalence and Spectrum of Chromosomal Abnormalities in 1366 Infertile Tunisian Men: A retrospective observational study.

Journal: La Tunisie medicale

Published: July 14, 2025

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Title Not Found

Journal: La Tunisie medicale

Published: August 19, 2024

Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature.

Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature.

Journal: Molecular cytogenetics

Published: August 08, 2024

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Journal: Molecular genetics & genomic medicine

Published: April 22, 2024

Genetic study of Alport syndrome in Tunisia.

Genetic study of Alport syndrome in Tunisia.

Journal: Pediatric nephrology (Berlin, Germany)

Published: March 24, 2024

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Journal: Molecular genetics & genomic medicine

Published: February 28, 2024

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Journal: Frontiers in genetics

Published: July 16, 2023

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Journal: International journal of molecular sciences

Published: January 05, 2023

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 15, 2022

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Journal: Molecular genetics & genomic medicine

Published: February 08, 2022

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Last Updated: 09/26/2026