Title |
Author(s) |
IrusType |
Repository |
Item URL |
Total Downloads |
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations |
orcid:0000-0002-2214-6444; orcid:0000-0002-6813-0288; Mohammad, M; Nanra, R; Colville, D; Trevillian, P; Wang, Y; Storey, H; Flinter, F; Savige, J |
Article |
University of Melbourne [Minerva Access] |
http://hdl.handle.net/11343/220110 |
83 |
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome |
orcid:0000-0002-2214-6444; orcid:0000-0002-6813-0288; Wang, Y; Sivakumar, V; Mohammad, M; Colville, D; Storey, H; Flinter, F; Dagher, H; Savige, J |
Article |
University of Melbourne [Minerva Access] |
http://hdl.handle.net/11343/217904 |
176 |
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome |
orcid:0000-0002-6813-0288; orcid:0000-0002-4118-4358; orcid:0000-0001-5549-9169; orcid:0000-0001-8714-2332; orcid:0000-0002-2214-6444; Savige, J; Ars, E; Cotton, RGH; Crockett, D; Dagher, H; Deltas, C; Ding, J; Flinter, F; Pont-Kingdon, G; Smaoui, N; Torr |
Article |
University of Melbourne [Minerva Access] |
http://hdl.handle.net/11343/220059 |
105 |
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease |
orcid:0000-0002-6813-0288; orcid:0000-0001-7667-187X; Savige, J; Dalgleish, R; Cotton, RGH; den Dunnen, JT; Macrae, F; Povey, S |
Article |
University of Melbourne [Minerva Access] |
http://hdl.handle.net/11343/219265 |
84 |