Marco Tartaglia
Ospedale Pediatrico Bambino Gesù
28 papers found
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Identification of the DNA methylation signature of Mowat-Wilson syndrome
UploadNatural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines
UploadPOU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum
UploadDNA methylation signature classification of rare disorders using publicly available methylation data
Download from onlinelibrary.wiley.comGenome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
Download from doi.orgAdult-onset KMT2B-related dystonia
Download from doi.orgBiallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
UploadPrevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making
Download from onlinelibrary.wiley.comClinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
Download from doi.orgEpilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
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