-
Wong, K, Downs, J, Ellaway, C, Baikie, G, Ravikumara, M, Jacoby, P, Christodoulou, J, Elliott, EJ, Leonard, H.
Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population..
J Pediatr
200:
188 -195.e1
2018
view publication
-
Coman, D, Vissers, LELM, Riley, LG, Kwint, MP, Hauck, R, Koster, J, Geuer, S, Hopkins, S, Hallinan, B, Sweetman, L, et al.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis..
Am J Hum Genet
103(1)
:
125 -130
2018
view publication
-
Kothur, K, Holman, K, Farnsworth, E, Ho, G, Lorentzos, M, Troedson, C, Gupta, S, Webster, R, Procopis, PG, Menezes, MP, et al.
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy..
Seizure
59:
132 -140
2018
view publication
-
McMillan, HJ, Telegrafi, A, Singleton, A, Cho, MT, Lelli, D, Lynn, FC, Griffin, J, Asamoah, A, Rinne, T, Erasmus, CE, et al.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy..
Orphanet J Rare Dis
13(1)
:
86
2018
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
102(4)
:
713
2018
view publication