Maria Margherita Mancardi
0000-0001-5122-4029
Istituto Giannina Gaslini
3 papers found
Refreshing results…
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
CASK related disorder: Epilepsy and developmental outcome
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations
Missing publications? Search for publications with a matching author name.