Search Results - "Pugh, Kye"

  • Showing 1 - 3 results of 3
Refine Results
  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…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  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…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  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)
    Get full text
    Report
    Save to List
    Saved in:

Search Tools: