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36 results on '"Fletcher, Robin S."'

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1. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

5. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

9. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

11. Near complete deletion ofKMT2Din a college student

12. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

14. Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

15. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

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