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Hayes, IM, Varigos, G, Upjohn, EJ, Orchard, DC, Penny, DJ, Savarirayan, R.
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti.
American Journal of Medical Genetics Part A
135A(3)
:
302 -303
2005
view publication
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Bateman, JF, Wilson, R, Freddi, S, Lamandé, SR, Savarirayan, R.
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
Human Mutation
25(6)
:
525 -534
2005
view publication
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Da Costa, AC, Savarirayan, R, Wrennall, JA, Walters, I, Gardiner, N, Tucker, A, Anderson, V, Meara, JG.
Neuropsychological Diversity in Apert Syndrome.
Annals of Plastic Surgery
54(4)
:
450 -455
2005
view publication
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Amor, DJ, Voullaire, L, Bentley, K, Savarirayan, R, Choo, KHA.
Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1‐13q32.3.
American Journal of Medical Genetics Part A
133A(2)
:
151 -157
2005
view publication
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Cohn, AC, Kearns, LS, Savarirayan, R, Ryan, J, Craig, JE, Mackey, DA.
Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter.
Ophthalmic Genetics
26(1)
:
45 -53
2005
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