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Godler, DE, Slater, HR, Amor, D, Loesch, DZ.
Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome..
Genet Med
12(9)
:
595
2010
view publication
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Tan, TY, Gordon, CT, Amor, DJ, Farlie, PG.
Developmental perspectives on copy number abnormalities of the 22q11.2 region..
Clin Genet
78(3)
:
201 -218
2010
view publication
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Traylor, RN, Bruno, DL, Burgess, T, Wildin, R, Spencer, A, Ganesamoorthy, D, Amor, DJ, Hunter, M, Caplan, M, Rosenfeld, JA, et al.
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33..
PLoS One
5(8)
:
e12462
2010
view publication
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Jaques, AM, Collins, VR, Muggli, EE, Amor, DJ, Francis, I, Sheffield, LJ, Halliday, JL.
Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome..
Prenat Diagn
30(6)
:
522 -530
2010
view publication
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Chopra, M, Amor, DJ, Sutton, L, Algar, E, Mowat, D.
Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection..
Reprod Biomed Online
20(6)
:
843 -847
2010
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