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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.American Journal of Human Genetics|May 28, 2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous PopulationDorota Monies, Mohammed Abouelhoda, Mirna Assoum, et al.Human Genetics|June 11, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesDorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, et al.Pageof 6