Hasil Pencarian - Alessia Mauri

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  1. 1
    Menkes disease complicated by concurrent ACY1 deficiency: A case report

    Menkes disease complicated by concurrent ACY1 deficiency: A case report oleh Alessia Mauri, Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda

    Diterbitkan 2023-03-01
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  2. 2
    Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis

    Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis oleh Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina Cereda

    Diterbitkan 2022-11-01
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  3. 3
    Subcutaneous Adipose Tissue Transcriptome Highlights Specific Expression Profiles in Severe Pediatric Obesity: A Pilot Study

    Subcutaneous Adipose Tissue Transcriptome Highlights Specific Expression Profiles in Severe Pediatric Obesity: A Pilot Study oleh Clarissa Berardo, Valeria Calcaterra, Alessia Mauri, Stephana Carelli, Letizia Messa, Francesca Destro, Federica Rey, Erika Cordaro, Gloria Pelizzo, Gianvincenzo Zuccotti, Cristina Cereda

    Diterbitkan 2023-04-01
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  4. 4
    Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots

    Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots oleh Alessia Mauri, Clarissa Berardo, Davide Biganzoli, Andrea Meta, Sara Benedetti, Federica Rey, Letizia Messa, Gian Vincenzo Zuccotti, Stephana Carelli, Luisella Alberti, Cristina Cereda

    Diterbitkan 2024-06-01
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  5. 5
    Redox Imbalance in Neurological Disorders in Adults and Children

    Redox Imbalance in Neurological Disorders in Adults and Children oleh Federica Rey, Clarissa Berardo, Erika Maghraby, Alessia Mauri, Letizia Messa, Letizia Esposito, Giovanna Casili, Sara Ottolenghi, Eleonora Bonaventura, Salvatore Cuzzocrea, Gianvincenzo Zuccotti, Davide Tonduti, Emanuela Esposito, Irene Paterniti, Cristina Cereda, Stephana Carelli

    Diterbitkan 2023-04-01
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