Myriam Chaabouni

Tunis, Tunisia

Last Updated: 09/26/2026

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Found 15 publications

Using Exome Sequencing to Identify the Causes of Neurodevelopmental Disorders: Experience of a North African Genetic Center.

Using Exome Sequencing to Identify the Causes of Neurodevelopmental Disorders: Experience of a North African Genetic Center.

Journal: Clinical genetics

Published: December 22, 2025

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Journal: Human molecular genetics

Published: March 14, 2025

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 05, 2022

Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.

Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.

Journal: Clinical genetics

Published: December 24, 2021

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Journal: American journal of human genetics

Published: July 02, 2021

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Journal: American journal of human genetics

Published: March 19, 2021

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.

Journal: Human genetics

Published: August 06, 2020

SQSTM1 mutation: Description of the first Tunisian case and literature review.

SQSTM1 mutation: Description of the first Tunisian case and literature review.

Journal: Molecular genetics & genomic medicine

Published: July 29, 2020

Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.

Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.

Journal: Neuropediatrics

Published: July 17, 2018

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.

Journal: European journal of dermatology : EJD

Published: July 26, 2017

Burkitt lymphoma in a child with Bloom syndrome.

Burkitt lymphoma in a child with Bloom syndrome.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: June 29, 2015

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Journal: European journal of human genetics : EJHG

Published: July 11, 2014

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Last Updated: 09/26/2026