Intellectual disabilitiy in developmental age

por Giuffrè, Mario, Moceri, Giovanni, Vecchio, Davide, Antona, Vincenzo, Salzano, Emanuela, Corsello, Giovanni
Publicado 2015

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

por Mercadante, Francesca, Busè, Martina, Salzano, Emanuela, Fragapane, Tiziana, Palazzo, Daniela, Malacarne, Michela, Piccione, Maria
Publicado 2020

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

por Mercadante, Francesca, Piro, Ettore, Busè, Martina, Salzano, Emanuela, Ferrara, Arturo, Serra, Gregorio, Passarello, Cristina, Corsello, Giovanni, Piccione, Maria
Publicado 2022

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

por Salzano, Emanuela, Niceta, Marcello, Pizzi, Simone, Radio, Francesca Clementina, Busè, Martina, Mercadante, Francesca, Barresi, Sabina, Ferrara, Arturo, Mancini, Cecilia, Tartaglia, Marco, Piccione, Maria
Publicado 2023

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

por Vinciguerra, Margherita, Leto, Filippo, Cassarà, Filippo, Tartaglia, Viviana, Malacarne, Michela, Coviello, Domenico, Cigna, Valentina, Orlandi, Emanuela, Picciotto, Francesco, Cucinella, Gaspare, Salzano, Emanuela, Piccione, Maria, Maggio, Aurelio, Giambona, Antonino
Publicado 2022

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

por Poeta, Loredana, Malacarne, Michela, Padula, Agnese, Drongitis, Denise, Verrillo, Lucia, Lioi, Maria Brigida, Chiariello, Andrea M., Bianco, Simona, Nicodemi, Mario, Piccione, Maria, Salzano, Emanuela, Coviello, Domenico, Miano, Maria Giuseppina
Publicado 2022