Title |
Author(s) |
IrusType |
Repository |
Item URL |
Total Downloads |
A novel INS mutation in a family with maturity-onset diabetes of the young: variable insulin secretion and putative mechanisms |
Johnson, Stephanie R.; Mcgown, Ivan; Oppermann, Udo; Conwell, Louise S.; Harris, Mark; Duncan, Emma L. |
Article |
University of Queensland [UQ eSpace] |
|
6 |
Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): a novel ABCC8 mutation in a previously screened family |
Johnson, Stephanie R.; Leo, Paul; Conwell, Louise S.; Harris, Mark; Brown, Matthew A.; Duncan, Emma L. |
Article |
University of Queensland [UQ eSpace] |
|
12 |
Cloning and characterization of a novel gene, striamin, that interacts with the tumor suppressor protein p53 |
Wadhwa R.; Sugihara T.; Yoshida A.; Duncan E.L.; Hardeman E.C.; Nomura H.; Reddel R.R.; Kaul S.C. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:330597 |
31 |
Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort |
Johnson, Stephanie R.; Ellis, Jonathan J.; Leo, Paul; Anderson, Lisa K.; Ganti, Uma; Harris, Jessica E.; Curran, Jacqueline A.; McInerney-Leo, Aideen; Paramalingam, Nirubasini; Song, Xiaoxia; Conwell, Louise S.; Harris, Mark; Jones, Timothy W.; Brown, Mat |
Article |
University of Queensland [UQ eSpace] |
|
11 |
Genetic studies in osteoporosis - the end of the beginning |
Duncan, Emma L.; Brown, Matthew A. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:193904 |
24 |
Genome-wide association study of extreme high bone mass: contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes |
Gregson, Celia L.; Newell, Felicity; Leo, Paul J.; Clark, Graeme R.; Paternoster, Lavinia; Marshall, Mhairi; Forgetta, Vincenzo; Morris, John A.; Ge, Bing; Bao, Xiao; Duncan Bassett, J. H.; Williams, Graham R.; Youlten, Scott E.; Croucher, Peter I.; Davey |
Article |
University of Queensland [UQ eSpace] |
|
7 |
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk |
Duncan, Emma L.; Danoy, Patrick; Kemp, John P.; Leo, Paul J.; McCloskey, Eugene; Nicholson, Geoffrey C.; Eastell, Richard; Prince, Richard L.; Eisman, John A.; Jones, Graeme; Sambrook, Philip N.; Reid, Ian R.; Dennison, Elaine M.; Wark, John; Richards, J. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:244560 |
42 |
Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm |
Zheng, Hou-Feng; Duncan, Emma L.; Yerges-Armstrong, Laura M.; Eriksson, Joel; Bergström, Ulrica; Leo, Paul J.; Leslie, William D.; Goltzman, David; Blangero, John; Hanley, David A.; Carless, Melanie A.; Streeten, Elizabeth A.; Lorentzon, Mattias; Bro |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:305070 |
66 |
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 |
NAD deficiency, congenital malformations, and niacin supplementation |
Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M. M. A.; Wang, Roni; Moreau, Julie; Lim, Chai K.; Szot, Justin O.; Ip, Eddie; Hughes, James N.; Sugimoto, Kotaro; Humphreys, David T.; McInerney-Leo, Aideen M.; Leo, Paul J.; Maghzal, Ghas |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:682057 |
378 |
Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin |
Williams, Kelly L.; McCann, Emily P.; Fifita, Jennifer A.; Zhang, Katharine.; Duncan, Emma L.; Leo, Paul J.; Marshall, Mhairi.; Rowe, Dominic B.; Nicholson, Garth A.; Blair, Ian P. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:369249 |
84 |
Osteoporosis medication dispensing for older Australian women from 2002 to 2010: influences of publications, guidelines, marketing activities and policy |
Peeters, Geeske; Tett, Susan E.; Duncan, Emma L.; Mishra, Gita D.; Dobson, Annette J. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:338473 |
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 |
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism |
Johnson, S. R.; Leo, P. J.; McInerney-Leo, A. M.; Anderson, L. K.; Marshall, M.; McGown, I.; Newell, F.; Brown, M. A.; Conwell, L. S.; Harris, M.; Duncan, E. L. |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:720407 |
38 |