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Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
Download from doi.orgBiallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
UploadPrenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
Download from onlinelibrary.wiley.comEpilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Download from doi.orgBroadening the phenotypic spectrum of Beta3GalT6 ‐associated phenotypes
Download from onlinelibrary.wiley.comPPP1R21 ‐ related syndromic intellectual disability: Report of an adult patient and review
Download from onlinelibrary.wiley.comSmall 4p16.3 deletions: Three additional patients and review of the literature
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