Showing 1 - 2 results of 2 for search 'Domizia Pasquetti', query time: 0.02s Refine Results
  1. 1
    Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in <i>MFSD8</i>

    Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Varia... by Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L’Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino

    Published 2023-01-01
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    Article
  2. 2
    Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

    Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability by Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L’Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi

    Published 2023-12-01
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    Article

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