The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Por Martinelli, Diego, Diodato, Daria, Ponzi, Emanuela, Monné, Magnus, Boenzi, Sara, Bertini, Enrico, Fiermonte, Giuseppe, Dionisi-Vici, Carlo
Publicado no Orphanet J Rare Dis (2015)

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

Por Ponzi, Emanuela, Alesi, Viola, Lepri, Francesca R., Genovese, Silvia, Loddo, Sara, Mucciolo, Mafalda, Novelli, Antonio, Dionisi‐Vici, Carlo, Maiorana, Arianna
Publicado no Mol Genet Genomic Med (2019)

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Por Ponzi, Emanuela, Gentile, Mattia, Agolini, Emanuele, Matera, Emilia, Palumbi, Roberto, Buonadonna, Antonia Lucia, Peschechera, Antonia, Gabellone, Alessandra, Antonucci, Maria Fatima, Margari, Lucia
Publicado no Mol Genet Genomic Med (2020)

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Por Cafiero, Concetta, Marangi, Giuseppe, Orteschi, Daniela, Ali, Marwan, Asaro, Alessia, Ponzi, Emanuela, Moncada, Alice, Ricciardi, Stefania, Murdolo, Marina, Mancano, Giorgia, Contaldo, Ilaria, Leuzzi, Vincenzo, Battaglia, Domenica, Mercuri, Eugenio, Slavotinek, Anne M, Zollino, Marcella
Publicado no Eur J Hum Genet (2015)