-
Savarirayan, R.
Skeletal dysplasias in fetuses: perinatal presentations and the genetic approach.
Pathology
43:
s9
2011
view publication
-
Fukuzawa, R, Holman, SK, Chow, CW, Savarirayan, R, Reeve, AE, Robertson, SP.
WTX mutations can occur both early and late in the pathogenesis of Wilms tumour..
J Med Genet
47(11)
:
791 -794
2010
view publication
-
Stark, Z, Ryan, MM, Bruno, DL, Burgess, T, Savarirayan, R.
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7..
Am J Med Genet A
152A(9)
:
2342 -2345
2010
view publication
-
Martinelli, S, De Luca, A, Stellacci, E, Rossi, C, Checquolo, S, Lepri, F, Caputo, V, Silvano, M, Buscherini, F, Consoli, F, et al.
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype..
Am J Hum Genet
87(2)
:
250 -257
2010
view publication
-
David-Vizcarra, G, Briody, J, Ault, J, Fietz, M, Fletcher, J, Savarirayan, R, Wilson, M, McGill, J, Edwards, M, Munns, C, et al.
The natural history and osteodystrophy of mucolipidosis types II and III..
J Paediatr Child Health
46(6)
:
316 -322
2010
view publication