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Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease |
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Titel: |
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease |
Auteur: |
Savarese, Marco Torella, Annalaura Musumeci, Olimpia Angelini, Corrado Astrea, Guja Bello, Luca Bruno, Claudio Comi, Giacomo Pietro Di Fruscio, Giuseppina Piluso, Giulio Di Iorio, Giuseppe Ergoli, Manuela Esposito, Gaia Fanin, Marina Farina, Olimpia Fiorillo, Chiara Garofalo, Arcomaria Giugliano, Teresa Magri, Francesca Minetti, Carlo Moggio, Maurizio Passamano, Luigia Pegoraro, Elena Picillo, Ester Sampaolo, Simone Santorelli, Filippo Maria Semplicini, Claudio Udd, Bjarne Toscano, Antonio Politano, Luisa Nigro, Vincenzo |
Verschenen in: |
Neuromuscular disorders |
Paginering: |
Jaargang 28 (2018) nr. 7 pagina's 586-591 |
Jaar: |
2018 |
Inhoud: |
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Uitgever: |
Elsevier B.V. |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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