-
Ilkovski, B, Pagnamenta, AT, O'Grady, GL, Kinoshita, T, Howard, MF, Lek, M, Thomas, B, Turner, A, Christodoulou, J, Sillence, D, et al.
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies..
Hum Mol Genet
24(21)
:
6146 -6159
2015
view publication
-
Al Hafid, N, Christodoulou, J.
Phenylketonuria: a review of current and future treatments..
Transl Pediatr
4(4)
:
304 -317
2015
view publication
-
Riley, LG, Rudinger-Thirion, J, Schmitz-Abe, K, Thorburn, DR, Davis, RL, Teo, J, Arbuckle, S, Cooper, ST, Frugier, M, Markianos, K, et al.
LARS2 variations can cause lethal infantile multisystem failure.
Mitochondrion
24:
s11 -s12
2015
view publication
-
Williamson, SL, Ellaway, CJ, Peters, GB, Pelka, GJ, Tam, PPL, Christodoulou, J.
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype..
Eur J Hum Genet
23(9)
:
1171 -1175
2015
view publication
-
Christodoulou, J.
Dhavendra Kumar and Charis Eng (eds): Genomic Medicine: Principles and Practice (Oxford Monographs on Medical Genetics) 2nd Edition.
Human Genetics
134(8)
:
927 -927
2015
view publication