Genomski dijagnostički algoritmi u obiteljima s djecom s neurorazvojnim poremećajima

Genomski dijagnostički algoritmi u obiteljima s djecom s neurorazvojnim poremećajima

Genetska testiranja kod pacijenata s neurorazvojnim poremećajima vrlo su važna za postavljanje konačne dijagnoze. Prema trenutnim smjernicama prve metode izbora uključuju komparativnu genomsku hibridizaciju na mikropostroju te genetsko testiranje fragilnog X sindroma. Cjeloeksomsko sekvenciranje koj...

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Bibliographic Details
Main Authors:	Feodora Stipoljev, Maja Oroz, Ana Vičić
Format:	Article
Language:	English
Published:	Hrvatski liječnički zbor 2023-01-01
Series:	Liječnički vjesnik
Subjects:	NEURORAZVOJNI POREMEĆAJI ACGH CJELOEKSOMSKO SEKVENCIRANJE CJELOGENOMSKO SEKVENCIRANJE
Online Access:	https://hrcak.srce.hr/file/434062

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