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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
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Robertson, SP, Dickens, R, Savarirayan, R, Rogers, JG.
An autosomal dominant or X‐linked osteodysplastic disorder with severe cervical involvement.
American Journal of Medical Genetics
83(1)
:
17 -22
1999
view publication
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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)
:
44 -44
1999
view publication
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Savarirayan, R, Tomlinson, P, Thompson, E.
Baller-Gerold syndrome associated with congenital portal venous malformation..
Journal of Medical Genetics
35(9)
:
767
1998
view publication
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Savarirayan, R, Bankier, A.
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype..
Journal of Medical Genetics
35(7)
:
597
1998
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