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Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

New genomic sequencing techniques have shown considerable promise in the field of neonatology, increasing the diagnostic rate and reducing time to diagnosis. However, several obstacles have hindered the incorporation of this technology into routine clinical practice. We prospectively evaluated the d...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Clin Med
Päätekijät: de Castro, María José, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Salguero, Enrique, Rite, Segundo, López-Suárez, Olalla, Pérez-Muñuzuri, Alejandro, Couce, María-Luz
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7464859/
https://ncbi.nlm.nih.gov/pubmed/32718099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9082362
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