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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Bibliografske podrobnosti
izdano v:Neurol Genet
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer 2021
Teme:
Article
Online dostop: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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