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SAVARIRAYAN, R, GARDNER, RJM, SINCLAIR, RD, MCDOWELL, M, CLEAVER, JE.
Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy.
Journal of Medical Genetics
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2000
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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.
American Journal of Medical Genetics
90(5)
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2000
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Unger, S, Savarirayan, R, Cormier-Daire, V, Cohn, D, Wilcox, W, Lachman, RS, Rimoin, DL.
Spondyloepimetaphyseal dysplasia with multiple joint dislocations.
Genetics in Medicine
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2000
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Savariravan, R, Freddi, S, Keene, DR, Rogers, JG, Bateman, JF.
The molecular pathogenesis of Schmid metaphyseal chondrodysplasia.
Genetics in Medicine
2(1)
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2000
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Savarirayan, R, Thompson, EM, Abbott, KJ, Moore, MH.
Cerebral cortical dysplasia and digital constriction rings in Adams‐Oliver syndrome.
American Journal of Medical Genetics
86(1)
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15 -19
1999
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