-
Freddi, S, Savarirayan, R, Bateman, JF.
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability..
Am J Med Genet
90(5)
:
398 -406
2000
view publication
-
Unger, S, Savarirayan, R, Cormier-Daire, V, Cohn, D, Wilcox, W, Lachman, RS, Rimoin, DL.
Spondyloepimetaphyseal dysplasia with multiple joint dislocations.
Genetics in Medicine
2(1)
:
89 -89
2000
view publication
-
Savariravan, R, Freddi, S, Keene, DR, Rogers, JG, Bateman, JF.
The molecular pathogenesis of Schmid metaphyseal chondrodysplasia.
Genetics in Medicine
2(1)
:
86 -86
2000
view publication
-
Savarirayan, R, Thompson, EM, Abbott, KJ, Moore, MH.
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome..
Am J Med Genet
86(1)
:
15 -19
1999
view publication
-
Savarirayan, R, Freddi, S, Bateman, JF.
Novel Protein Truncation Test To Detect COL2A1 Nonsense Mutations in Stickler Syndrome.
Pediatric Research
45(7)
:
141 -141
1999
view publication