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Exome Sequencing Improves the Molecular Diagnostics of Paediatric Unexplained Neurodevelopmental Disorders

Marketa Wayhelova,Vladimira Vallova,Petr Broz,Aneta Mikulasova,Jan Smetana,Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova,Renata Gaillyova,Petr Kuglik

Orphanet Journal of Rare Diseases（2024）

Cited 4|Views16
Key words
Exome sequencing,Neurodevelopmental disorders,Sequence variant,Copy-number variation
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