-
Balasubramaniam, S, Riley, LG, Bratkovic, D, Ketteridge, D, Manton, N, Cowley, MJ, Gayevskiy, V, Roscioli, T, Mohamed, M, Gardeitchik, T, et al.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency..
J Inherit Metab Dis
40(5)
:
745 -747
2017
view publication
-
Lake, NJ, Webb, BD, Stroud, DA, Richman, TR, Ruzzenente, B, Compton, AG, Mountford, HS, Pulman, J, Zangarelli, C, Rio, M, et al.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome..
Am J Hum Genet
101(2)
:
239 -254
2017
view publication
-
Gold, WA, Sobreira, N, Wiame, E, Marbaix, A, Van Schaftingen, E, Franzka, P, Riley, LG, Worgan, L, Hübner, CA, Christodoulou, J, et al.
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction..
Am J Med Genet A
173(8)
:
2246 -2250
2017
view publication
-
Krishnaraj, R, Ho, G, Christodoulou, J.
RettBASE: Rett syndrome database update..
Hum Mutat
38(8)
:
922 -931
2017
view publication
-
Zurynski, Y, Deverell, M, Dalkeith, T, Johnson, S, Christodoulou, J, Leonard, H, Elliott, EJ, APSU Rare Diseases Impacts on Families Study group.
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays..
Orphanet J Rare Dis
12(1)
:
68
2017
view publication