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Susman, MR, Amor, DJ, Halliday, JL.
Non-invasive prenatal diagnosis--toward a new horizon..
Med J Aust
191(7)
:
414
2009
view publication
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Hunter, M, Bruno, D, Amor, DJ.
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment..
Am J Med Genet A
149A(8)
:
1763 -1767
2009
view publication
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Amor, DJ, Xu, JX, Halliday, JL, Francis, I, Healy, DL, Breheny, S, Baker, HWG, Jaques, AM.
Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndrome..
Hum Reprod
24(6)
:
1330 -1338
2009
view publication
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Yeung, A, Francis, D, Giouzeppos, O, Amor, DJ.
Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p..
Am J Med Genet A
149A(3)
:
505 -509
2009
view publication
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Yeung, A, Amor, D, Savarirayan, R.
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome..
Am J Med Genet A
149A(4)
:
767 -769
2009
view publication