Search Results - Carducci, Carla

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    European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance by Munck, Anne (Author) , Berger, Daria O. (Author) , Southern, Kevin W. (Author) , Carducci, Carla (Author) , de Winter-de Groot, Karin M (Author) , Gartner, Silvia (Author) , Kashirskaya, Nataliya (Author) , Linnane, Barry (Author) , Proesmans, Marijke (Author) , Sands, Dorota (Author) , Sommerburg, Olaf (Author) , Castellani, Carlo (Author) , Barben, Jürg (Author) ,


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  2. 2
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    Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations by Himmelreich, Nastassja (Author) , Montioli, Riccardo (Author) , Garbade, Sven (Author) , Kopesky, Jeffrey (Author) , Elsea, Sarah H. (Author) , Carducci, Carla (Author) , Voltattorni, Carla B. (Author) , Blau, Nenad (Author) ,


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    Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook by Himmelreich, Nastassja (Author) , Montioli, Riccardo (Author) , Bertoldi, Mariarita (Author) , Carducci, Carla (Author) , Leuzzi, Vincenzo (Author) , Gemperle, Corinne (Author) , Berner, Todd (Author) , Hyland, Keith (Author) , Thöny, Beat (Author) , Hoffmann, Georg F. (Author) , Voltattorni, Carla B. (Author) , Blau, Nenad (Author) ,


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