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Maternal serum pregnancy-associated plasma protein A (PAPP-A) but not pregnancy-specific β1-glycoprotein (SP1) is a useful second-trimester marker for fetal trisomy 18.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 6, p. 537, doi. 10.1002/(SICI)1097-0223(199906)19:6<537::AID-PD573>3.0.CO;2-T
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- Publication type:
- Article
Screening for fetal Down syndrome with maternal serum hCG and oestriol: a prospective study.
- Published in:
- 1992
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- Publication type:
- journal article
Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y.
- Published in:
- 1989
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- Publication type:
- journal article
The usefulness of hCG and unconjugated oestriol in prenatal diagnosis of trisomy 18.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1996, v. 103, n. 4, p. 335, doi. 10.1111/j.1471-0528.1996.tb09738.x
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- Publication type:
- Article
Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.
- Published in:
- Human Reproduction, 2011, v. 26, n. 9, p. 2570, doi. 10.1093/humrep/der193
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- Publication type:
- Article
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 293, doi. 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q
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- Publication type:
- Article
A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Published in:
- Human Mutation, 1999, v. 14, n. 2, p. 182, doi. 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU13>3.0.CO;2-V
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- Publication type:
- Article