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Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
UploadThe clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
UploadChung– Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
Download from onlinelibrary.wiley.comDSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
Download from doi.orgCongenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
Download from onlinelibrary.wiley.comGenome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
Download from doi.orgPrenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
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