Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach

BACKGROUND AND PURPOSE: Next‐generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders (NMDs). Nevertheless, most patients still remain undiagnosed, and there is a need to maximize the diagnostic yield. METHODS: A retrospective study was conducted on...

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Veröffentlicht in:Eur J Neurol
Hauptverfasser: Krenn, M., Tomschik, M., Rath, J., Cetin, H., Grisold, A., Zulehner, G., Milenkovic, I., Stogmann, E., Zimprich, A., Strom, T. M., Meitinger, T., Wagner, M., Zimprich, F.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6916592/
https://ncbi.nlm.nih.gov/pubmed/31407473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ene.14033
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