Search Results - "Viti, Leon"

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  1. 1
    Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease

    Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease by Heng, Julian I.‐T., Viti, Leon, Pugh, Kye, Marshall, Owen J., Agostino, Mark

    Published in Journal of neurochemistry (01-05-2022)
    “…Mutations to genes that encode DNA‐binding transcription factors (TFs) underlie a broad spectrum of human neurodevelopmental disorders. Here, we highlight the…”
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  2. 2
    Further evidence for distinct traits associated with RBM10 missense variants

    Further evidence for distinct traits associated with RBM10 missense variants by Poulton, Cathryn, Baynam, Gareth, Pugh, Kye, Mason, Michael, Kiraly‐Borri, Catherine, Gration, Dylan, Dreyer, Lauren, Viti, Leon, Agostino, Mark, Heng, Julian Ik‐Tsen

    Published in Clinical genetics (01-08-2022)
    “…A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability…”
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  3. 3
    Further evidence for distinct traits associated with RBM10 missense variants

    Further evidence for distinct traits associated with RBM10 missense variants by Poulton, Cathryn, Baynam, Gareth, Pugh, Kye, Mason, Michael, Kiraly-Borri, Catherine, Gration, Dylan, Dreyer, Lauren, Viti, Leon, Agostino, Mark, Heng, Julian Ik-Tsen

    Published in Clinical genetics (01-08-2022)
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