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Savarirayan, R, White, SM, Goodman, FR, Graham, JM, Delatycki, MB, Lachman, RS, Rimoin, DL, Everman, DB, Warman, ML.
Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families.
American Journal of Medical Genetics Part A
117A(2)
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136 -142
2003
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Bateman, JF, Freddi, S, Nattrass, G, Savarirayan, R.
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.
Human Molecular Genetics
12(3)
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217 -225
2003
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Savarirayan, R, Robertson, SP, Bankier, A, Rogers, JG.
Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter.
Fetal and Pediatric Pathology
22(1)
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37 -46
2003
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Aldred, M, Savarirayan, R, Crawford, P.
Amelogenesis imperfecta: a classification and catalogue for the 21st century.
Oral Diseases
9(1)
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19 -23
2003
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Everman, DB, Bartels, CF, Yang, Y, Yanamandra, N, Goodman, FR, Mendoza‐Londono, JR, Savarirayan, R, White, SM, Graham, JM, Gale, RP, et al.
The mutational spectrum of brachydactyly type C.
American Journal of Medical Genetics
112(3)
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291 -296
2002
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