Antonio Vitobello
Centre Hospitalier Universitaire de Dijon
16 papers found
Refreshing results…
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgThe neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
UploadA second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
UploadClinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
Download from doi.orgVariants of human CLDN9 cause mild to profound hearing loss
Download from onlinelibrary.wiley.comExome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients
UploadNeuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
UploadDeciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Download from onlinelibrary.wiley.comMissing publications? Search for publications with a matching author name.