Search Results - Laing, N.

  • Showing 1 - 8 results of 8
Refine Results
  1. 1
    Outcomes of an international workshop on preconception expanded carrier screening: Some considerations for governments

    Outcomes of an international workshop on preconception expanded carrier screening: Some considerations for governments by Molster, C., Lister, K., Metternick-Jones, S., Baynam, G., Clarke, A., Straub, V., Dawkins, Hugh, Laing, N.

    Published 2017
    Get full text
  2. 2
    Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

    Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies by ravenscroft, G., Jackaman, Connie, Bringans, S., Papadimitriou, J., griffiths, L., mcnamara, E., Bakker, A., Davies, K., Laing, N., Nowak, K.

    Published 2011
    Get full text
  3. 3
    A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

    A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces by Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, Hugh, Goldblatt, J.

    Published 2015
    Get full text
  4. 4
    Actin Nemaline Myopathy Mouse Reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression

    Actin Nemaline Myopathy Mouse Reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression by Ravenscroft, G., Jackaman, Connie, Sewry, C., Mcnamara, E., Squire, S., Potter, A., Papadimitriou, J., Griffiths, L., Bakker, A., Davies, K., Laing, N., Nowak, K.

    Published 2011
    Get full text
  5. 5
    Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1)

    Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1) by Laing, N., Dye, Danielle, Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T., Lochmüller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J., Beggs, A., Nowak, K.

    Published 2009
    Get full text
  6. 6
    Mutations in TPM3 are a common cause of congenital fiber type disproportion

    Mutations in TPM3 are a common cause of congenital fiber type disproportion by Clarke, N., Kolski, H., Dye, Danielle, Lim, E., Smith, R., Patel, R., Fahey, M., Bellance, R., Romero, N., Johnson, E., Labarre-Vila, A., Monnier, N., Laing, N., North, K.

    Published 2008
    Get full text
  7. 7
    The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.

    The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service. by Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Walker, C., Molster, C., Blackwell, J., Jamieson, S., Tang, D., Lassmann, T., Mina, K., Beilby, J., Davis, M., Laing, N., Murphy, L., Weeramanthri, T., Dawkins, Hugh, Goldblatt, J.

    Published 2016
    Get full text
  8. 8
    Improved diagnosis and care for rare diseases through implementation of precision public health framework

    Improved diagnosis and care for rare diseases through implementation of precision public health framework by Baynam, Gareth, Bowman, F., Lister, K., Walker, C., Pachter, N., Goldblatt, J., Boycott, K., Gahl, W., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, Fiona, Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P., Haendel, M., Brudno, M., Mattick, J., Dinger, M., Roscioli, T., Cowley, M., Olry, A., Hanauer, M., Alkuraya, F., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N., Julkowska, D., Le Cam, Y., Terry, S., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S., Austin, C., Draghia-Akli, R., Weeramanthri, Tarun, Molster, C., Dawkins, Hugh

    Published 2017
    Get full text

Search Tools: