A. Giacobbe

Complex genomic alterations and intellectual disability: an interpretative challenge.

D. Milani, E. Monfrini, S. Guerneri, 2020, Journal of intellectual disability research : JIDR.

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

P. Striano, M. Galli, F. Zara, 2018, Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

G. Comi, S. Corti, G. Scuvera, 2022, Skeletal Muscle.

Electroclinical phenotype in Rubinstein–Taybi syndrome

S. Avignone, F. Triulzi, D. Milani, 2016, Brain & development (Tokyo. 1979).

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

S. Avignone, F. Triulzi, D. Milani, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Electroclinical phenotype in Rubinstein–Taybi syndrome

S. Avignone, F. Triulzi, D. Milani, 2016, Brain and Development.