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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
Download from doi.orgDNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
UploadA novel GABRB3 variant in Dravet syndrome: Case report and literature review
Download from onlinelibrary.wiley.comClinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
Download from link.springer.comIdentification of novel mutations in L1CAM gene by a DHPLC-based assay
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