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Image Search Results
Journal: European Journal of Neurology
Article Title: Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach
doi: 10.1111/ene.14033
Figure Lengend Snippet: Demographic, clinical and genetic characteristics of all patients with reported variants after ES
Article Snippet: 52 ,
Techniques: Biomarker Discovery, Variant Assay, Diagnostic Assay, Methylation, Clinical Proteomics
Journal: European Journal of Neurology
Article Title: Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach
doi: 10.1111/ene.14033
Figure Lengend Snippet: Comparison of ES to a targeted gene panel ( <25 kb) and a comprehensive panel in all patients with a final diagnosis
Article Snippet: 52 ,
Techniques: Comparison