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| Author | Identifier | Number of Items | Total Downloads |
|---|---|---|---|
| Christodoulou, J |  https://orcid.org/0000-0002-8431-0641 |
6 | 236 |
| Title | Author(s) | IrusType | Repository | Item URL | Total Downloads |
|---|---|---|---|---|---|
| Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays | orcid:0000-0002-8431-0641; Zurynski, Y; Deverell, M; Dalkeith, T; Johnson, S; Christodoulou, J; Leonard, H; Elliott, EJ | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213970 | 77 |
| Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain | orcid:0000-0002-9431-6094; orcid:0000-0003-3823-0787; orcid:0000-0001-7968-7375; orcid:0000-0002-8431-0641; Gibson, JH; Slobedman, B; Harikrishnan, KN; Williamson, SL; Minchenko, D; El-Osta, A; Stern, JL; Christodoulou, J | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213971 | 26 |
| Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome | orcid:0000-0001-5178-6080; orcid:0000-0001-5422-7284; orcid:0000-0002-8431-0641; Downs, J; Wong, K; Ravikumara, M; Ellaway, C; Elliott, EJ; Christodoulou, J; Jacoby, P; Leonard, H | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213974 | 31 |
| MECP2 genomic structure and function: insights from ENCODE | orcid:0000-0002-8431-0641; Singh, J; Saxena, A; Christodoulou, J; Ravine, D | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213972 | 31 |
| Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia | orcid:0000-0003-0589-0703; orcid:0000-0002-8431-0641; Riley, LG; Menezes, MJ; Rudinger-Thirion, J; Duff, R; de Lonlay, P; Rotig, A; Tchan, MC; Davis, M; Cooper, ST; Christodoulou, J | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213973 | 36 |
| Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases | orcid:0000-0002-8431-0641; orcid:0000-0003-2088-730X; orcid:0000-0003-2379-6286; Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Baric, I; Bubshait, DK; Burlina, A; Christodoulou, J; Chun | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213969 | 35 |
