Adelaide Research & Scholarship
Browsing "Medicine publications" by Author Fietz, M.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 2022 | Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. | Hoorntje, E.T.; Burns, C.; Marsili, L.; Corden, B.; Parikh, V.N.; Te Meerman, G.J.; Gray, B.; Adiyaman, A.; Bagnall, R.D.; Barge-Schaapveld, D.Q.C.M.; van den Berg, M.P.; Bootsma, M.; Bosman, L.P.; Correnti, G.; Duflou, J.; Eppinga, R.N.; Fatkin, D.; Fietz, M.; Haan, E.; Jongbloed, J.D.H.; et al. |
| 2013 | Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations | Ravenscroft, G.; Thompson, E.; Todd, E.; Yau, K.; Kresoje, N.; Sivadorai, P.; Friend, K.; Riley, K.; Manton, N.; Blumbergs, P.; Fietz, M.; Duff, R.; Davis, M.; Allcock, R.; Laing, N. |