Hasil Pencarian - Mark T. Handley

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  1. 1
    Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

    Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome oleh Mark T. Handley, André Mégarbané, Alison M. Meynert, Stephen Brown, Elisabeth Freyer, Martin S. Taylor, Ian J. Jackson, Irene A. Aligianis

    Diterbitkan 2014-07-01
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  2. 2
    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation oleh Mark T. Handley, Sarah M. Carpanini, Girish R. Mali, Duska J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David R. FitzPatrick

    Diterbitkan 2015-01-01
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  3. 3
    A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

    A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton oleh Sarah M. Carpanini, Lisa McKie, Derek Thomson, Ann K. Wright, Sarah L. Gordon, Sarah L. Roche, Mark T. Handley, Harris Morrison, David Brownstein, Thomas M. Wishart, Michael A. Cousin, Thomas H. Gillingwater, Irene A. Aligianis, Ian J. Jackson

    Diterbitkan 2014-06-01
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  4. 4
    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. oleh Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert W Taylor, Andrew J Finch, David R FitzPatrick

    Diterbitkan 2019-03-01
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