-
Vandebrouk, AV, Domazetovska, AD, Cooper, STC, Ilkovski, BI, North, KNN. G.P.13.03 Mechanisms of rod formation in disease.
Neuromuscular Disorders
18(9-10)
:
807 -808
2008
view publication
-
Lek, M, Clarke, NF, Waddell, L, Thomas, B, DePristo, M, Daly, MJ, North, KN, MacArthur, DG. O.18 Systematic identification of causal mutations in Mendelian disorders using exome sequence data.
Neuromuscular Disorders
23(9-10)
:
850
2013
view publication
-
Thomas, KC, Hamilton, NA, North, KN, Houweling, PJ. Sequence analysis of the equine ACTN3 gene in Australian horse breeds.
Gene
538(1)
:
88 -93
2014
view publication
-
Carss, KJ, Stevens, E, Foley, AR, Cirak, S, Riemersma, M, Torelli, S, Hoischen, A, Willer, T, van Scherpenzeel, M, Moore, SA, et al. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan.
American Journal of Human Genetics
93(1)
:
29 -41
2013
view publication
-
Wang, D, Nykanen, M, Yang, N, Winlaw, D, North, K, Verkman, AS, Owler, BK. Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency.
Molecular and Cellular Neuroscience
46(1)
:
318 -324
2010
view publication