AS
Ali Saad

Publications (11)

Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach
Article scientifique · 2026
Molecular characterization of Porokeratosis in Tunisian patients with intraindividual and intrafamilial clinical heterogeneity
Article scientifique · 2023
Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?
Article scientifique · 2023
Autism in patients with Williams-Beuren syndrome: A re-evaluation of 31 Tunisian patients’ phenotype
Article scientifique · 2022
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review
Article scientifique · 2022
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
Article scientifique · 2022
Phenotypic Intrafamilial Variability Including H Syndrome and Rosai Dorfman Disease Associated With the Same c.1088G>A mutation in the SLC29A3 gene.
Article scientifique · 2021
Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene
Article scientifique · 2021
Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype
Article scientifique · 2019
Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype
Article scientifique · 2019
Neuronal migration genes and a familial translocation t(3;17): which genes are implicated in the phenotype?
Article scientifique · 2019

Domaines principaux

Sciences de la vie et biotechnologies8 Sciences de la santé3

Statistiques

Consultations19
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