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Yeung, A, Bruno, D, Scheffer, IE, Carranza, D, Burgess, T, Slater, HR, Amor, DJ.
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
European Journal of Medical Genetics
52(6)
:
440 -442
2009
view publication
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Susman, MR, Amor, DJ, Halliday, JL.
Non‐invasive prenatal diagnosis — toward a new horizon.
The Medical Journal of Australia
191(7)
:
414 -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.
American Journal of Medical Genetics Part A
149A(8)
:
1763 -1767
2009
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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.
Human Reproduction
24(6)
:
1330 -1338
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.
American Journal of Medical Genetics Part A
149A(4)
:
767 -769
2009
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