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Utility of clinical exome sequencing in a complex Emirati pediatric cohort
(2020)
Abstract: Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the ...
The Genomic Landscape of Pediatric Rheumatology Disorders in the Middle East
(2020)
Abstract:
Genetic investigations for patients with pediatric rheumatological disorders have been limited to classic genotyping testing, mainly MEFV hotspot mutation analysis, for periodic fever. Therefore, the landscape ...