-
Savarirayan, R, White, SM, Goodman, FR, Graham, JM, Delatycki, MB, Lachman, RS, Rimoin, DL, Everman, DB, Warman, ML.
Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families.
American Journal of Medical Genetics Part A
117A(2)
:
136 -142
2003
view publication
-
Tassicker, R, Savulescu, J, Skene, L, Marshall, P, Fitzgerald, L, Delatycki, MB.
Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal, and ethical viewpoints.
The BMJ
326(7384)
:
331
2003
view publication
-
Efron, D, Delatycki, MB, de Silva, MG, Langbein, A, Slaghuis, W, Larson, A, Dahl, H-HM, Forrest, SM.
A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.
Journal of Medical Genetics
40(2)
:
e15
2003
view publication
-
Mottram, PM, Gelman, JS, Donelan, L, Delatycki, M, Moir, S, Peverill, RE.
Tissue doppler assessment of systolic and diastolic function in freidreichs ataxia.
Heart Lung and Circulation
12(2)
:
a63
2003
view publication
-
Lower, KM, Turner, G, Kerr, BA, Mathews, KD, Shaw, MA, Gedeon, ÁK, Schelley, S, Hoyme, HE, White, SM, Delatycki, MB, et al.
Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome.
Nature Genetics
32(4)
:
661 -665
2002
view publication