Publications

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Author Title [ Year(Desc)]
Filters: Author is Freeze, Hudson H and Keyword is Exome  [Clear All Filters]
2013
Ng, B. G. et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 92, 632-6 (2013).
2014
Freeze, H. H., Chong, J. X., Bamshad, M. J. & Ng, B. G. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 94, 161-75 (2014).
2015
Ng, B. G. et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat 36, 1048-51 (2015).