Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

por Tritto, Viviana, Grilli, Federico, Milani, Donatella, Riva, Paola
Publicado 2023

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

por Castronovo, Paola, Aleo, Sebastiano, Seresini, Agostino, Grilli, Federico, Brunati, Emilio, Marchisio, Paola, Guez, Sophie, Milani, Donatella
Publicado 2022

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

por Moresco, Giada, Costanza, Jole, Santaniello, Carlo, Rondinone, Ornella, Grilli, Federico, Prada, Elisabetta, Orcesi, Simona, Coro, Ilaria, Pichiecchio, Anna, Marchisio, Paola, Miozzo, Monica, Fontana, Laura, Milani, Donatella
Publicado 2021