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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes..
J Med Genet
47(5)
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299 -311
2010
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Susman, MR, Amor, DJ, Muggli, E, Jaques, AM, Halliday, J.
Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome..
Genet Med
12(5)
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2010
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Halliday, JL, Ukoumunne, OC, Baker, HWG, Breheny, S, Jaques, AM, Garrett, C, Healy, D, Amor, D.
Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies..
Hum Reprod
25(1)
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2010
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Stark, Z, Bruno, DL, Mountford, H, Lockhart, PJ, Amor, DJ.
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features..
Eur J Med Genet
53(5)
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337 -339
2010
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Tan, TY, Amor, DJ, Riley, M, Halliday, J, Kilpatrick, N, Simms, K, White, SM.
Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia..
Cleft Palate Craniofac J
46(6)
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2009
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