Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

BACKGROUND: Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called “diagnostic odysseys”. Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome...

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Veröffentlicht in:PLoS One
Hauptverfasser: Córdoba, Marta, Rodriguez-Quiroga, Sergio Alejandro, Vega, Patricia Analía, Salinas, Valeria, Perez-Maturo, Josefina, Amartino, Hernán, Vásquez-Dusefante, Cecilia, Medina, Nancy, González-Morón, Dolores, Kauffman, Marcelo Andrés
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2018
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5794057/
https://ncbi.nlm.nih.gov/pubmed/29389947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0191228
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