Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis

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journal：Journal of Medical Genetics

Authors：Emanuela Abiusi; Alessandro Vaisfeld; Stefania Fiori; Agnese Novelli; Serena Spartano; Maria Vittoria Faggiano; Teresa Giovanniello; Antonio Angeloni; Giovanni Vento; Roberta Santoloci; Francesca Gigli; Adele D'Amico; Simonetta Costa; Alessia Porzi; Mara Panella; Chiara Ticci; Marta Daniotti; Michele Sacchini; Ilaria Boschi; Carlo Dani; Rino Agostiniani; Enrico Bertini; Antonio Lanzone; Giancarlo Lamarca; Maurizio Genuardi; Marika Pane; Maria Alice Donati; Eugenio Mercuri; Francesco Danilo Tiziano

Published date：2023-7-

DOI：10.1136/jmg-2022-108873

PDF link：https://syndication.highwire.org ... 136/jmg-2022-108873

Article link：http://dx.doi.org/10.1136/jmg-2022-108873

Article Source：BMJ。

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