Tony Roscioli
Centre for Vascular Research
University of New South Wales
Sydney 2052
Australia
Name/email consistency: high
- Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Roscioli, T., Cliffe, S.T., Bloch, D.B., Bell, C.G., Mullan, G., Taylor, P.J., Sarris, M., Wang, J., Donald, J.A., Kirk, E.P., Ziegler, J.B., Salzer, U., McDonald, G.B., Wong, M., Lindeman, R., Buckley, M.F. Nat. Genet. (2006)
- The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. Roscioli, T., Taylor, P.J., Bohlken, A., Donald, J.A., Masel, J., Glass, I.A., Buckley, M.F. Am. J. Med. Genet. A (2004)