Title |
Author(s) |
IrusType |
Repository |
Item URL |
Total Downloads |
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 |
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 |
The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls |
McMeniman, E. K.; Duffy, D. L.; Jagirdar, K.; Lee, K. J.; Peach, E.; McInerney-Leo, A. M.; De'Ambrosis, B.; Rayner, J. E.; Smithers, B. M.; Soyer, H. P.; Sturm, R. A. |
Article |
University of Queensland [UQ eSpace] |
|
94 |
Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia |
Hunt, Lauren; Peterson, Madelyn; Sinnott, Stephen; Sutton, Bridget; Cincotta, Robert; Duncombe, Gregory; Chua, Jackie; McInerney-Leo, Aideen |
Article |
University of Queensland [UQ eSpace] |
https://espace.library.uq.edu.au/view/UQ:284491 |
6 |
Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label” |
Withers, Chelsea M.; Fleming, Jane; Wallingford, Courtney K.; Gabbett, Michael T.; Peterson, Madelyn; Humphreys, Linda; McInerney-Leo, Aideen |
Article |
University of Queensland [UQ eSpace] |
|
8 |
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 |