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Robertson, SP, Dickens, R, Savarirayan, R, Rogers, JG.
An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement..
Am J Med Genet
83(1)
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17 -22
1999
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Savarirayan, R, Freddi, S, Bateman, JF.
Novel Protein Truncation Test to detect COL2AI Nonsense Mutations in Stickler syndrome.
Genetics in Medicine
1(2)
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44 -44
1999
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Savarirayan, R, Tomlinson, P, Thompson, E.
Baller-Gerold syndrome associated with congenital portal venous malformation..
J Med Genet
35(9)
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767 -769
1998
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Savarirayan, R, Bankier, A.
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype..
J Med Genet
35(7)
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597 -599
1998
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Savarirayan, R, Nance, J, Morris, L, Haan, E, Couper, R.
Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family..
Clin Genet
52(4)
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199 -205
1997
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