Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights

por Vaisfeld, Alessandro, Taormina, Sara, Simonati, Alessandro, Neri, Giovanni
Publicado 2022

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus

por Giuffrida, Maria Grazia, Goldoni, Marina, Genovesi, Maria Luce, Carpentieri, Giovanna, Torres, Barbara, Deac, Anca Daniela, Cecchetti, Serena, Martinelli, Anna, Vaisfeld, Alessandro, Flex, Elisabetta, Bernardini, Laura
Publicado 2022

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

por Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco
Publicado 2017

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder

por Bacchelli, Elena, Viggiano, Marta, Ceroni, Fabiola, Visconti, Paola, Posar, Annio, Scaduto, Maria, Sandoni, Laura, Baravelli, Irene, Cameli, Cinzia, Rochat, Magali, Maresca, Alessandra, Vaisfeld, Alessandro, Gentilini, Davide, Calzari, Luciano, Carelli, Valerio, Zody, Michael, Maestrini, Elena
Publicado 2023

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement

por Vaisfeld, Alessandro, Bruno, Giorgia, Petracca, Martina, Bentivoglio, Anna Rita, Servidei, Serenella, Vita, Maria Gabriella, Bove, Francesco, Straccia, Giulia, Dato, Clemente, Di Iorio, Giuseppe, Sampaolo, Simone, Peluso, Silvio, De Rosa, Anna, De Michele, Giuseppe, Barghigiani, Melissa, Galatolo, Daniele, Tessa, Alessandra, Santorelli, Filippo, Chiurazzi, Pietro, Melone, Mariarosa Anna Beatrice
Publicado 2021

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

por Pane, Marika, Donati, Maria Alice, Cutrona, Costanza, De Sanctis, Roberto, Pirinu, Matteo, Coratti, Giorgia, Ricci, Martina, Palermo, Concetta, Berti, Beatrice, Leone, Daniela, Ticci, Chiara, Sacchini, Michele, Cerboneschi, Margherita, Capasso, Anna, Cicala, Gianpaolo, Pera, Maria Carmela, Bravetti, Chiara, Abiusi, Emanuela, Vaisfeld, Alessandro, Vento, Giovanni, Tiziano, Francesco Danilo, Mercuri, Eugenio
Publicado 2022