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Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

  • Elisa Grillo,

    Affiliation Medical Genetics, University of Siena, Siena, Italy

  • Caterina Lo Rizzo,

    Affiliations Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy

  • Laura Bianciardi,

    Affiliation Medical Genetics, University of Siena, Siena, Italy

  • Veronica Bizzarri,

    Affiliations Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy

  • Margherita Baldassarri,

    Affiliation Medical Genetics, University of Siena, Siena, Italy

  • Ottavia Spiga,

    Affiliation Biochemistry and Molecular Biology, University of Siena, Siena, Italy

  • Simone Furini,

    Affiliation Department of Surgery and Bioengineering University of Siena, Siena, Italy

  • Claudio De Felice,

    Affiliation Neonatal Intensive Care Unit University Hospital Azienda Ospedaliera Universitaria Senese (AOUS) of Siena, Siena, Italy

  • Cinzia Signorini,

    Affiliation Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy

  • Silvia Leoncini,

    Affiliations Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy, Child Neuropsychiatry Unit, University Hospital, AOUS, Siena, Italy

  • Alessandra Pecorelli,

    Affiliations Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy, Child Neuropsychiatry Unit, University Hospital, AOUS, Siena, Italy

  • Lucia Ciccoli,

    Affiliation Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy

  • Maria Antonietta Mencarelli,

    Affiliations Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy

  • Joussef Hayek,

    Affiliation Child Neuropsychiatry Unit, University Hospital, AOUS, Siena, Italy

  • Ilaria Meloni,

    Affiliation Medical Genetics, University of Siena, Siena, Italy

  • Francesca Ariani,

    Affiliation Medical Genetics, University of Siena, Siena, Italy

  • Francesca Mari,

    Affiliations Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy

  •  [ ... ],
  • Alessandra Renieri

    alessandra.renieri@unisi.it

    Affiliations Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy

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