Found: 23
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Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Diagnosis of triploidy in metaphases from uncultured amniocytes.
- Published in:
- 2002
- By:
- Publication type:
- Letter
Raised maternal serum placenta growth factor concentration during the second trimester is associated with Down syndrome.
- Published in:
- 2002
- By:
- Publication type:
- journal article
First application of denaturing high-performance liquid chromatography (DHPLC) for prenatal diagnosis of genetic disease.
- Published in:
- 2002
- By:
- Publication type:
- commentary
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
- Published in:
- 2002
- By:
- Publication type:
- journal article
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Variation in uptake of serum screening: the role of service delivery.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Ultrasound-guided umbilical cord occlusion using bipolar diathermy for Stage III/IV twin-twin transfusion syndrome.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A negative second trimester triple test and absence of specific ultrasonographic markers may decrease the need for genetic amniocentesis in advanced maternal age by 60%.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Detection of fetal structural abnormalities at the 11-14 week ultrasound scan.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Fluorescence in situ hybridization of uncultured lymphocytes from cystic hygroma fluid: a potential approach for rapid prenatal diagnosis.
- Published in:
- 2002
- By:
- Publication type:
- Case Study
New technique using galactose-specific lectin for isolation of fetal cells from maternal blood.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.
- Published in:
- 2002
- By:
- Publication type:
- journal article
The effect of a systemic arteriovenous fistula on the pulmonary arterial blood pressure in the fetal sheep.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Middle cerebral artery Doppler study in fetuses with homozygous α-thalassaemia-1 at 12-13 weeks of gestation.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 1, p. 56, doi. 10.1002/pd.237
- By:
- Publication type:
- Article
Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Prenatal diagnosis of Joubert syndrome: a case report.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).
- Published in:
- 2002
- By:
- Publication type:
- journal article
Detection of fetal cells in intrauterine lavage samples collected in the first trimester of pregnancy.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).
- Published in:
- 2002
- By:
- Publication type:
- Case Study
Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Current Awareness.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 1, p. 83, doi. 10.1002/pd.264
- Publication type:
- Article
Three-dimensional ultrasonography of osteogenesis imperfecta at early pregnancy.
- Published in:
- 2002
- By:
- Publication type:
- Case Study