Alessandro Bruselles
Istituto Superiore di Sanità
69 papers found
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Broadening the phenotypic spectrum of Beta3GalT6 ‐associated phenotypes
Download from onlinelibrary.wiley.comDe Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
UploadEnhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
UploadRefinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
Download from api.wiley.comSpecific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
UploadMutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
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