Refreshing results…
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
Download from doi.orgComplete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
Download from www.nature.comTypical facial gestalt in X-linked Kabuki syndrome
Download from api.wiley.comMutations inMYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS
UploadSETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort
UploadOtopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
Download from www.nature.comGrowth patterns of patients with Noonan syndrome: correlation with age and genotype
Download from www.eje-online.orgMissing publications? Search for publications with a matching author name.