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Author statistics

Author Identifier Number of Items Total Downloads
Zankl, A https://orcid.org/0000-0001-8612-1062 8 95

Items

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
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