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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Dades bibliogràfiques
Publicat a:Neurol Genet
Autors principals: 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
Idioma:Inglês
Publicat: Wolters Kluwer 2021
Matèries:
Article
Accés en línia: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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