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The diagnostic journey of genetically defined neurodevelopmental disorders

BACKGROUND: The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide ti...

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Detalles Bibliográficos
Autores principales: Simon, Juliana, Hyde, Carly, Saravanapandian, Vidya, Wilson, Rujuta, Distefano, Charlotte, Besterman, Aaron, Jeste, Shafali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059413/
https://www.ncbi.nlm.nih.gov/pubmed/35501684
http://dx.doi.org/10.1186/s11689-022-09439-9