A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onsetDomenico Umberto De Rose, Eugenio Mercuri, Chiara Veredice et al.|Neurological Sciences|2021Cited by 13
Cortical malformations and COL4A1 mutation: Three new casesGiovanni Vitale, Orsetta Zuffardi, Anna Pichiecchio et al.|European Journal of Paediatric Neurology|2019Cited by 12
Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern ItalyCostanza Varesio, Valentina De Giorgis, Simone Gana et al.|Diagnostics|2021Cited by 9