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Connell, B, Wilkinson, R, Barbour, J, Scotter, L, Poulsen, J, Wirth, M, Essex, R, Savarirayan, R, Mackey, D.
Are Duane syndrome and infantile esotropia allelic?.
Ophthalmic Genetics
25(3)
:
189 -198
2004
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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.
American Journal of Medical Genetics Part A
122A(3)
:
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.
Prenatal Diagnosis
23(10)
:
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.
American Journal of Medical Genetics Part A
122A(2)
:
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 ΔF508 and the other R117H.
Archives of Disease in Childhood
88(10)
:
886
2003
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