Hasil Pencarian - Sara Bertuzzo

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  1. 1
    Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

    Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDerm... oleh Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera

    Diterbitkan 2020-06-01
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  2. 2
    Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

    Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants oleh Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Edoardo Errichiello, Teresa Mattina, Teresa Mattina, Orsetta Zuffardi

    Diterbitkan 2023-09-01
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