Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A et al.
European Journal of Human Genetics : Ejhg, 2024
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Yahia A et al.
Annals of Human Genetics, 2022
CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.
Bauer G et al.
Clinical Genetics, 2022
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R et al.
Molecular Psychiatry, 2018
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