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KMT2A: Umbrella Gene for Multiple Diseases
Download from doi.orgSBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel
Download from www.karger.comANKRD11 variants: KBG syndrome and beyond
UploadInsights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein–Taybi Syndrome
Download from doi.orgNeurological phenotype of Potocki–Lupski syndrome
Download from api.wiley.comUnexpected phenotype in a frameshift mutation of PTCH1
Download from onlinelibrary.wiley.comMissing publications? Search for publications with a matching author name.