-
Liu, XZ, Xie, D, Yuan, HJ, de Brouwer, APM, Christodoulou, J, Yan, D.
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy..
Int J Audiol
52(1)
:
23 -28
2013
view publication
-
Christodoulou, J.
Gene discovery for orphan diseases: this is why you do it.
Pathology
45:
s30
2013
view publication
-
Tchan, MC, Wilcken, B, Christodoulou, J.
The mild form of menkes disease: a 34 year progress report on the original case..
9:
81 -84
2013
view publication
-
Hershman, SG, Tucker, EJ, Köhrer, C, Belcher-Timme, CA, Patel, J, Goldberger, OA, Christodoulou, J, Silberstein, JM, McKenzie, M, Ryan, MT, et al.
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Mitochondrion
12(5)
:
583
2012
view publication
-
Gold, WA, Williamson, SL, Kaur, S, Gibson, JH, Pelka, GJ, Hargreaves, IP, Land, JM, Tam, PPL, Christodoulou, J.
Mitochondrial defects in Rett syndrome.
Mitochondrion
12(5)
:
576 -577
2012
view publication