Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights by Alessandro Vaisfeld, Sara Taormina, Alessandro Simonati, Giovanni Neri

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3′UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus by Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini

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Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force by Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi

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Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates by Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali J. Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valerio Carelli, Michael C. Zody, Elena Maestrini, Elena Bacchelli

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Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement by Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, Anna Rita Bentivoglio, Serenella Servidei, Maria Gabriella Vita, Francesco Bove, Giulia Straccia, Clemente Dato, Giuseppe Di Iorio, Simone Sampaolo, Silvio Peluso, Anna De Rosa, Giuseppe De Michele, Melissa Barghigiani, Daniele Galatolo, Alessandra Tessa, Filippo Santorelli, Pietro Chiurazzi, Mariarosa Anna Beatrice Melone

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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children by Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli

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