Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.
Published in Molecular genetics and metabolism (01.08.2019)
Published in Molecular genetics and metabolism (01.08.2019)
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Journal Article
An optical relay approach to very low cost hybrid polymer-complementary metal-oxide semiconductor electrophoresis instrumentation
Hall, Gordon H., Sloan, David L., Ma, Tianchi, Couse, Madeline H., Martel, Stephane, Elliott, Duncan G., Glerum, D. Moira, Backhouse, Christopher J.
Published in Journal of Chromatography A (04.07.2014)
Published in Journal of Chromatography A (04.07.2014)
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Journal Article
Conference Proceeding
An automated hand-held CMOS-based instrument for hand-held mutation detection via electrophoresis
Hall, Gordon H., Ma, Tianchi, Couse, Madeline H., Hume, Stacey, Sloan, David L., Elliott, Duncan G., Glerum, D. Moira, Backhouse, Christopher J.
Published in 14th IEEE International Conference on Nanotechnology (01.08.2014)
Published in 14th IEEE International Conference on Nanotechnology (01.08.2014)
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Conference Proceeding