Khouloud Rjiba

Common Service Unit In Genetics
Sousse, Tunisia

Last Updated: 09/26/2026

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Found 10 publications

1st Congress of the Tunisian Society of Human Genomics October 17-18 & 19, 2024, Sousse, Tunisia Genomics for a sustainable healthcare system.

1st Congress of the Tunisian Society of Human Genomics October 17-18 & 19, 2024, Sousse, Tunisia Genomics for a sustainable healthcare system.

Journal: Journal of community genetics

Published: June 15, 2026

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights.

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights.

Journal: Molecular cytogenetics

Published: December 01, 2025

Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.

Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.

Journal: Molecular biology reports

Published: August 26, 2025

Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment.

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

Bloom syndrome in children: unusual case of early onset lung damage.

Bloom syndrome in children: unusual case of early onset lung damage.

Journal: Clinical dysmorphology

Published: March 06, 2023

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

Journal: Journal of clinical research in pediatric endocrinology

Published: August 19, 2022

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.

Journal: Molecular cytogenetics

Published: August 01, 2022

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Journal: Reproductive biology and endocrinology : RB&E

Published: July 14, 2022

Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.

Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.

Journal: European journal of medical genetics

Published: March 12, 2021

Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.

Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.

Journal: Molecular cytogenetics

Published: December 23, 2020

Showing 1-10 of 10

Last Updated: 09/26/2026