Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

OBJECTIVE: We hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial disease and to explore whether any of the traditi...

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Bibliografische gegevens
Gepubliceerd in:Neurol Genet
Hoofdauteurs: Forny, Patrick, Footitt, Emma, Davison, James E., Lam, Amanda, Woodward, Cathy E., Batzios, Spyros, Bhate, Sanjay, Chakrapani, Anupam, Cleary, Maureen, Gissen, Paul, Grunewald, Stephanie, Hurst, Jane A., Scott, Richard, Heales, Simon, Jacques, Thomas S., Cullup, Thomas, Rahman, Shamima
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Wolters Kluwer 2021
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8161540/
https://ncbi.nlm.nih.gov/pubmed/34056100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000597
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