Search Results - "Kirk, E.P."

Investigation of cardiac death - what is (technically) possible? by Kirk, E.P.

“…In searching for genetic causes of cardiac death, the key requirements are collection of the appropriate sample and selection of the appropriate test. It is…”
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Investigation of cardiac death - what is (technically) possible? by Kirk, E.P.

“…In searching for genetic causes of cardiac death, the key requirements are collection of the appropriate sample and selection of the appropriate test. It is…”
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Case report of a child bearing a novel deleterious splicing variant in PIGT by Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P, Urreizti, Roser

“…Trio family-based whole exome sequencing (WES) is a powerful tool in the diagnosis of rare neurodevelopmental diseases, even in patients with the unclear…”
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Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients by Roscioli, T., Elakis, G., Cox, T.C., Moon, D.J., Venselaar, H., Turner, A.M., Le, T., Hackett, E., Haan, E., Colley, A., Mowat, D., Worgan, L., Kirk, E.P., Sachdev, R., Thompson, E., Gabbett, M., McGaughran, J., Gibson, K., Gattas, M., Freckmann, M-L., Dixon, J., Hoefsloot, L., Field, M., Hackett, A., Kamien, B., Edwards, M., Adès, L.C., Collins, F.A., Wilson, M.J., Savarirayan, R., Tan, T.Y., Amor, D.J., McGIllivray, G., White, S.M., Glass, I.A., David, D.J., Anderson, P.J., Gianoutsos, M., Buckley, M.F.

“…Craniosynostosis is one of the most common craniofacial disorders encountered in clinical genetics practice, with an overall incidence of 1 in 2,500. Between…”
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Changes in resting metabolic rate and substrate oxidation after 16 months of exercise training in overweight adults by Potteiger, Jeffrey A, Kirk, Erik P, Jacobsen, Dennis J, Donnelly, Joseph E

“…To determine whether 16 months of moderate-intensity exercise training changes resting metabolic rate (RMR) and substrate oxidation in overweight young adults…”
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Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation by Chopra, M., Jackson, R., Durkie, M., Beauchamp, N.J., Kirk, E.P.

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Periventricular Heterotopia in Common Microdeletion Syndromes by van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.P., Robertson, S.P.

“…Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neurons lining the walls of the cerebral ventricles. Mutations…”
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Time course for changes in aerobic capacity and body composition in overweight men and women in response to long-term exercise: the Midwest Exercise Trial (MET) by Kirk, E.P, Jacobsen, D.J, Gibson, C, Hill, J.O, Donnelly, J.E

“…OBJECTIVE: To determine the time course for changes in aerobic capacity, body weight (BW), and composition in overweight adults in response to a supervised…”
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occurrence of congenital heart defects in an inbred herd of pigs in Australia by Holyoake, P.K, Stevenson, J, Moran, C, Stokes, R, Kirk, E.P, Sugo, E, Hawthorne, W.J

“…Objective To report on the first case of congenital heart defects in pigs in Australia. Design Retrospective analysis of case records from an inbred herd of…”
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influence of calcium consumption on weight and fat following 9 months of exercise in men and women by Bailey, B.W, Sullivan, D.K, Kirk, E.P, Hall, S, Donnelly, J.E

“…Background: There is some evidence that calcium consumption improves weight loss during energy restriction but the effects of calcium consumption in…”
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