-
Downs, J, Wong, K, Torode, I, Ellaway, C, Elliott, E, Christodoulou, J, Jacoby, P, Leoanrd, H.
Survival following surgical correction of scoliosis in Rett syndrome: a population-based study in Australia.
Physiotherapy
101:
e326 -e327
2015
view publication
-
Menezes, MJ, Guo, Y, Zhang, J, Riley, LG, Cooper, ST, Thorburn, DR, Li, J, Dong, D, Li, Z, Glessner, J, et al.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia..
Hum Mol Genet
24(8)
:
2297 -2307
2015
view publication
-
Guo, Y, Menezes, MJ, Menezes, MP, Liang, J, Li, D, Riley, LG, Clarke, NF, Andrews, PI, Tian, L, Webster, R, et al.
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect..
Neuromuscul Disord
25(3)
:
257 -261
2015
view publication
-
Falk, MJ, Shen, L, Gonzalez, M, Leipzig, J, Lott, MT, Stassen, APM, Diroma, MA, Navarro-Gomez, D, Yeske, P, Bai, R, et al.
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities..
Mol Genet Metab
114(3)
:
388 -396
2015
view publication
-
Bhattacharya, K, Moore, F, Christodoulou, J.
Genetic Metabolic Disease.
275 -298
2015
view publication