Title |
Author(s) |
IrusType |
Repository |
Item URL |
Total Downloads |
Functional performance in young Australian children with achondroplasia |
Ireland, Penelope Jane; Mcgill, James; Zankl, Andreas; Ware, Robert S.; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth M.; Townshend, Sharron; Johnston, Leanne Marie |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:253157 |
2 |
Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain |
Paul, Razan; Groza, Tudor; Hunter, Jane; Zankl, Andreas |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:330465 |
2 |
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years |
Ireland, Penelope J.; Johnson, Sarah; Donaghey, Samantha; Johnston, Leanne; Ware, Robert S.; Zankl, Andreas; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; McGill, James |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:255695 |
2 |
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB |
Andreas Zankl; Duncan, Emma L.; Leo, Paul J.; Clark, Graeme R.; Glazov, Evgeny A.; Addor, Marie-Claude; Herlin, Troels; Kim, Chong Ae; Leheup, Bruno P.; McGill, Jim; McTaggart, Steven; Mittas, Stephan; Mitche, Anna L.; Mortier, Geert R.; Robertson, Stephe |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:270109 |
3 |
Semantic similarity-driven decision support in the skeletal dysplasia domain |
Razan, Paul; Groza, Tudor; Zankl, Andreas; Hunter, Jane |
Conference Papers/Posters |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:283274 |
2 |
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia |
Conwell, Louise S.; Hermanns, Pia; Zankl, Andreas |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:194976 |
50 |
Significance of molecular testing for congenital chloride diarrhea |
Lechner, Silvia; Ruemmele, Frank M.; Zankl, Andreas; Lausch, Ekkehart; Huber, Wolf-Dietrich; Mihatsch, Walter; Phillips, Alan D.; Lewindon, Peter; Querfeld, Uwe; Heinz-Erian, Peter; Muller, Thomas; Janecke, Andreas R. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:261993 |
1 |
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia |
Glazov, Evgeny A.; Zankl, Andreas; Donskoi, Marina; Kenna,Tony J.; Thomas, Gethin P.; Clark, Graeme R.; Duncan, E. L.; Brown, Matthew A. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:241466 |
33 |