Zoekresultaten - Cooper, Sandra T

Terminology for early pregnancy loss must be changed door Hutchon, David J R, Cooper, Sandra

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Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality door Dawes, Ruebena, Lek, Monkol, Cooper, Sandra T.

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Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data door Dawes, Ruebena, Joshi, Himanshu, Cooper, Sandra T.

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Development and Evaluation of a PCR-Based Assay for Detection of Haemobartonella felis in Cats and Differentiation of H. felis from Related Bacteria by Restriction Fragment Length... door Messick, Joanne B., Berent, Linda M., Cooper, Sandra K.

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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins door Lek, Angela, Lek, Monkol, North, Kathryn N, Cooper, Sandra T

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A Novel Function for Hydroxyproline Oxidase in Apoptosis through Generation of Reactive Oxygen Species door Cooper, Sandra K., Pandhare, Jui, Donald, Steven P., Phang, James M.

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Regulation and Function of Proline Oxidase under Nutrient Stress door Pandhare, Jui, Cooper, Sandra K., Donald, Steven P., Phang, James M.

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The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus door Serebryannyy, Leonid A., Yuen, Michaela, Parilla, Megan, Cooper, Sandra T., de Lanerolle, Primal

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Eating habits and attitudes among 10-year-old children of mothers with eating disorders: Longitudinal study door Stein, Alan, Woolley, Helen, Cooper, Sandra, Winterbottom, Jonathan, Fairburn, Christopher G., Cortina-Borja, Mario

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Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P door Woolger, Natalie, Bournazos, Adam, Sophocleous, Reece A., Evesson, Frances J., Lek, Angela, Driemer, Birgit, Sutton, R. Bryan, Cooper, Sandra T.

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Dopamine-2 receptor extracellular N-terminus regulates receptor surface availability and is the target of human pathogenic antibodies from children with movement and psychiatric di... door Sinmaz, Nese, Tea, Fiona, Pilli, Deepti, Zou, Alicia, Amatoury, Mazen, Nguyen, Tina, Merheb, Vera, Ramanathan, Sudarshini, Cooper, Sandra T., Dale, Russell C., Brilot, Fabienne

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Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway door Evesson, Frances J., Peat, Rachel A., Lek, Angela, Brilot, Fabienne, Lo, Harriet P., Dale, Russell C., Parton, Robert G., North, Kathryn N., Cooper, Sandra T.

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Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient door Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J.

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Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development door Peng, Ying, Cooper, Sandra K., Li, Yi, Mei, Jay M., Qiu, Shuwei, Borchert, Gregory L., Donald, Steven P., Kung, Hsiang-fu, Phang, James M.

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Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling door Piper, Ann-Katrin, Ross, Samuel E., Redpath, Gregory M., Lemckert, Frances A., Woolger, Natalie, Bournazos, Adam, Greer, Peter A., Sutton, Roger B., Cooper, Sandra T.

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Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy door Ilkovski, Biljana, Mokbel, Nancy, Lewis, Raymond A., Walker, Kendall, Nowak, Kristen J., Domazetovska, Ana, Laing, Nigel G., Fowler, Velia M., North, Kathryn N., Cooper, Sandra T.

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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia door Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John

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Calpains, Cleaved Mini-Dysferlin(C72), and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair door Lek, Angela, Evesson, Frances J., Lemckert, Frances A., Redpath, Gregory M. I., Lueders, Ann-Katrin, Turnbull, Lynne, Whitchurch, Cynthia B., North, Kathryn N., Cooper, Sandra T.

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Alternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane Repair door Fuson, Kerry, Rice, Anne, Mahling, Ryan, Snow, Adam, Nayak, Kamakshi, Shanbhogue, Prajna, Meyer, Austin G., Redpath, Gregory M.I., Hinderliter, Anne, Cooper, Sandra T., Sutton, R. Bryan

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Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant door Yuen, Michaela, Worgan, Lisa, Iwanski, Jessika, Pappas, Christopher T., Joshi, Himanshu, Churko, Jared M., Arbuckle, Susan, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony, Gregorio, Carol C., Cooper, Sandra T.

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