-
Stark, Z, Savarirayan, R.
Osteopetrosis.
Orphanet Journal of Rare Diseases
4(1)
:
5
2009
view publication
-
Landers, JA, Hewitt, AW, Dimasi, DP, Charlesworth, JC, Straga, T, Mills, RAD, Savarirayan, R, Mackey, DA, Burdon, KP, Craig, JE.
Heritability of Central Corneal Thickness in Nuclear Families.
Investigative Ophthalmology & Visual Science
50(9)
:
4087 -4090
2009
view publication
-
Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Chng, SC, Li, Y, Shboul, M, Tham, P-Y, Kayserili, H, Al-Gazali, L, et al.
Mutations in PYCR1 cause cutis laxa with progeroid features.
Nature Genetics
41(9)
:
1016 -1021
2009
view publication
-
James, PA, Culling, B, Mullan, G, Jenkins, M, Elakis, G, Turner, AM, Mowat, DM, Wilson, M, Anderson, P, Savarirayan, R, et al.
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study.
Genes Chromosomes and Cancer
48(7)
:
533 -538
2009
view publication
-
Tan, TY, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, EP, Love, D, Ronan, A, Darmanian, A, et al.
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
Journal of Medical Genetics
46(7)
:
480
2009
view publication