A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

por De Rose, Domenico Umberto, Gallini, Francesca, Battaglia, Domenica Immacolata, Tiberi, Eloisa, Gaudino, Simona, Contaldo, Ilaria, Veredice, Chiara, Romeo, Domenico Marco, Massimi, Luca, Asaro, Alessia, Cereda, Cristina, Vento, Giovanni, Mercuri, Eugenio Maria
Publicado 2021

Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

por Varesio, Costanza, Gana, Simone, Asaro, Alessia, Ballante, Elena, Cabini, Raffaella Fiamma, Tartara, Elena, Bagnaschi, Michela, Pasca, Ludovica, Valente, Marialuisa, Orcesi, Simona, Cereda, Cristina, Veggiotti, Pierangelo, Borgatti, Renato, Valente, Enza Maria, De Giorgis, Valentina
Publicado 2021