Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences

Rare diseases cumulatively affect a significant number of people, and for many, a diagnosis remains elusive. The Victorian Undiagnosed Disease Program (UDP-Vic) utilizes deep phenotyping, advanced genomic sequencing and functional studies to diagnose children with rare diseases for which previous cl...

Descripción completa

Detalles Bibliográficos
Autores principales: Martinussen, Jo, Chalk, Michal, Elliott, Justine, Gallacher, Lyndon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410238/
https://www.ncbi.nlm.nih.gov/pubmed/36013198
http://dx.doi.org/10.3390/jpm12081250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410238/
https://www.ncbi.nlm.nih.gov/pubmed/36013198
http://dx.doi.org/10.3390/jpm12081250

Ejemplares similares