Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion

por Milone, Roberta, Ferrari, Anna Rita, Pasquariello, Rosa, Bargagna, Stefania
Publicado 2016

De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability

por Milone, Roberta, Scalise, Roberta, Pasquariello, Rosa, Berloffa, Stefano, Ricca, Ivana, Battini, Roberta
Publicado 2021

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

por Bertini, Veronica, Azzarà, Alessia, Legitimo, Annalisa, Milone, Roberta, Battini, Roberta, Consolini, Rita, Valetto, Angelo
Publicado 2017

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

por Milone, Roberta, Masson, Riccardo, Di Cosmo, Caterina, Tonacchera, Massimo, Bertini, Veronica, Guzzetta, Andrea, Battini, Roberta
Publicado 2019

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

por Milone, Roberta, Tancredi, Raffaella, Cosenza, Angela, Ferrari, Anna Rita, Scalise, Roberta, Cioni, Giovanni, Battini, Roberta
Publicado 2021

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

por Della Vecchia, Stefania, Milone, Roberta, Cagiano, Romina, Calderoni, Sara, Santocchi, Elisa, Pasquariello, Rosa, Battini, Roberta, Muratori, Filippo
Publicado 2021

Synthetic Response of Stimulated Respiratory Epithelium: Modulation by Prednisolone and iKK2 Inhibition

por Woodman, Lucy Bianca, Wan, Wing Yan Heidi, Milone, Roberta, Grace, Ken, Sousa, Ana, Williamson, Rick, Brightling, Christopher Edward
Publicado 2013

Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances

por Bertini, Veronica, Milone, Roberta, Cristofani, Paola, Cambi, Francesca, Bosetti, Chiara, Barbieri, Filippo, Bertelloni, Silvano, Cioni, Giovanni, Valetto, Angelo, Battini, Roberta
Publicado 2022

Expanding the KIF4A ‐associated phenotype

por Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Publicado 2021

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

por D'Amore, Angelica, Tessa, Alessandra, Casali, Carlo, Dotti, Maria Teresa, Filla, Alessandro, Silvestri, Gabriella, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Bruno, Irene, Cereda, Cristina, Dato, Clemente, Di Iorio, Giuseppe, Donadio, Vincenzo, Felicori, Monica, Fini, Nicola, Fiorillo, Chiara, Gallone, Salvatore, Gemignani, Federica, Gigli, Gian Luigi, Graziano, Claudio, Guerrini, Renzo, Gurrieri, Fiorella, Kariminejad, Ariana, Lieto, Maria, Marques LourenḈo, Charles, Malandrini, Alessandro, Mandich, Paola, Marcotulli, Christian, Mari, Francesco, Massacesi, Luca, Melone, Maria A. B., Mignarri, Andrea, Milone, Roberta, Musumeci, Olimpia, Pegoraro, Elena, Perna, Alessia, Petrucci, Antonio, Pini, Antonella, Pochiero, Francesca, Pons, Maria Roser, Ricca, Ivana, Rossi, Salvatore, Seri, Marco, Stanzial, Franco, Tinelli, Francesca, Toscano, Antonio, Valente, Mariarosaria, Federico, Antonio, Rubegni, Anna, Santorelli, Filippo Maria
Publicado 2018