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Smith, KR, Bromhead, CJ, Hildebrand, MS, Shearer, AE, Lockhart, PJ, Najmabadi, H, Leventer, RJ, McGillivray, G, Amor, DJ, Smith, RJ, et al.
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes.
Genome Biology
12(9)
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r85
2011
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Rieubland, C, Holmes, AD, Caramins, M, Roscioli, T, Amor, DJ.
Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?.
American Journal of Medical Genetics Part A
155(1)
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233 -234
2011
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Jaques, AM, Amor, DJ, Baker, HWG, Healy, DL, Ukoumunne, OC, Breheny, S, Garrett, C, Halliday, JL.
Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies.
Fertility and Sterility
94(7)
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2674 -2679
2010
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McClaren, BJ, Metcalfe, SA, Aitken, M, Massie, RJ, Ukoumunne, OC, Amor, DJ.
Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.
European Journal of Human Genetics
18(10)
:
1084 -1089
2010
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Johnston, JJ, Sapp, JC, Turner, JT, Amor, D, Aftimos, S, Aleck, KA, Bocian, M, Bodurtha, JN, Cox, GF, Curry, CJ, et al.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human Mutation
31(10)
:
1142 -1154
2010
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