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Mäkitie, O, Savarirayan, R, Bonafé, L, Robertson, S, Susic, M, Superti-Furga, A, Cole, WG.
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign..
Am J Med Genet A
122A(3)
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187 -192
2003
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James, PA, Shaw, J, du Sart, D, Craig, E, Bateman, JF, Savarirayan, R.
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia..
Prenat Diagn
23(10)
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861 -863
2003
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Hill, V, Sahhar, M, Aitken, M, Savarirayan, R, Metcalfe, S.
Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature..
Am J Med Genet A
122A(2)
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100 -107
2003
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Curnow, L, Savarirayan, R, Massie, J.
Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H..
Arch Dis Child
88(10)
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886 -888
2003
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Janssens, K, Thompson, E, Vanhoenacker, F, Savarirayan, R, Morris, L, Dobbie, A, Van Hul, W.
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?.
Clin Dysmorphol
12(4)
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245 -250
2003
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