15 results on '"Joosten, Marieke"'
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2. Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?
3. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
4. Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast
5. Social and medical need for whole genome high resolution NIPT
6. Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
7. Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
8. Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
9. Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases
10. Pitfalls in the diagnosis of hemophilia severity: What to do?
11. Fetal anemia caused by the Guadalajara variant of G6PD deficiency
12. Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
13. The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
14. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
15. Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
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