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The diagnostic yield of CGH and WES in neurodevelopmental disorders

BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent ye...

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Principais autores: Raniah S. Alotibi, Naif S. Sannan, Mariam AlEissa, Marwh G. Aldriwesh, Abeer Al Tuwaijri, Maaged A. Akiel, Mashael Almutairi, Alhanouf Alsamer, Nouf Altharawi, Ghadah Aljawfan, Badi Alotiabi, Mohammed A. AlBlawi, Ahmed Alfares
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2023-03-01
Serier:Frontiers in Pediatrics
Fag:
array-based comparative hybridization (Array-CGH)
whole exome sequencing (WES)
copy number variations (CNVs)
single-nucleotide variants (SNVs)
neurodevelopmental disorders (NDDs)
Online adgang:https://www.frontiersin.org/articles/10.3389/fped.2023.1133789/full
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