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Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond

Novel approaches to uncover the molecular etiology of neurodevelopmental disorders (NDD) are highly needed. Even using a powerful tool such as whole exome sequencing (WES), the diagnostic process may still prove long and arduous due to the high clinical and genetic heterogeneity of these conditions....

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Detalles Bibliográficos
Autores principales:	Barili, Valeria, Ambrosini, Enrico, Uliana, Vera, Bellini, Melissa, Vitetta, Giulia, Martorana, Davide, Cannizzaro, Ilenia Rita, Taiani, Antonietta, De Sensi, Erika, Caggiati, Patrizia, Hilton, Sarah, Banka, Siddharth, Percesepe, Antonio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297877/ https://www.ncbi.nlm.nih.gov/pubmed/37372421 http://dx.doi.org/10.3390/genes14061241

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