-
Huq, AJ, Bogwitz, M, Gorelik, A, Winship, IM, White, SM, Trainer, AH.
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.
Internal Medicine Journal
47(6)
:
664 -673
2017
view publication
-
Wortmann, SB, Chen, MA, Colombo, R, Pontoglio, A, Alhaddad, B, Botto, LD, Yuzyuk, T, Coughlin, CR, Descartes, M, Grűnewald, S, et al.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Journal of Inherited Metabolic Disease
40(3)
:
423 -431
2017
view publication
-
Marsh, APL, Yap, P, Tan, T, Pope, K, White, SM, Chong, B, Mcgillivray, G, Boys, A, Stephenson, SEM, Leventer, RJ, et al.
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
American Journal of Medical Genetics Part A
173(3)
:
820 -823
2017
view publication
-
Kaufman, J, White, SM.
An approach to the child with dysmorphic features.
Journal of Paediatrics and Child Health
53(3)
:
221 -222
2017
view publication
-
Meyer, E, Carss, KJ, Rankin, J, Nichols, JME, Grozeva, D, Joseph, AP, Mencacci, NE, Papandreou, A, Ng, J, Barral, S, et al.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature Genetics
49(2)
:
223 -237
2017
view publication