Yosra Halleb
Le Mans, France
Last Updated: 09/26/2026
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Found 9 publications
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Journal: Neurology
Published: June 26, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: April 23, 2024
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 05, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Journal: Journal of neurology
Published: October 30, 2020
Clinical, biological, radiological, and genetic study of LPAC syndrome in Tunisian patients.
Journal: Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology
Published: September 15, 2020
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.
Journal: Acta diabetologica
Published: August 25, 2018
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: July 22, 2018
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Last Updated: 09/26/2026