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Karin E M Diderich Selected Research

dichlorobis(azomycin)platinum II

1/2022Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
1/2021Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan.
1/2020Social and medical need for whole genome high resolution NIPT.
1/2020Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.
12/2019TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
10/2019Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
11/2018Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
1/2017The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
1/2016False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
1/2016Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.

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Karin E M Diderich Research Topics

Disease

8Chromosome Aberrations (Chromosome Abnormalities)
01/2022 - 01/2016
4Aneuploidy (Aneuploid)
01/2021 - 01/2016
3Trisomy (Trisomies)
01/2022 - 11/2018
2Down Syndrome (Down's Syndrome)
01/2021 - 01/2020
1Sacral defect and anterior sacral meningocele
01/2022
1Anorectal Malformations
01/2022
1Malformations of Cortical Development
11/2021
1Congenital Abnormalities (Deformity)
01/2021
1Uniparental Disomy
10/2019
1Osteogenesis Imperfecta (Lobstein Disease)
04/2017
1Trisomy 18 Syndrome
01/2016
1Persistent Fetal Circulation Syndrome
06/2013
1Alveolar capillary dysplasia
06/2013
1Trichothiodystrophy Syndromes
08/2012
1Hypoglycemia (Reactive Hypoglycemia)
01/2007
1Cockayne Syndrome (Syndrome, Cockayne)
01/2007

Drug/Important Bio-Agent (IBA)

10dichlorobis(azomycin)platinum IIIBA
01/2022 - 01/2016
1Proteins (Proteins, Gene)FDA Link
01/2022
1TubulinIBA
11/2021
1Cell-Free Nucleic AcidsIBA
01/2021
1alpha2 Subunit Collagen Type IIBA
04/2017
1Collagen Type I (Type I Collagen)IBA
04/2017
1DNA (Deoxyribonucleic Acid)IBA
06/2013
1Transcription Factor TFIIHIBA
08/2012
1Growth Hormone (Somatotropin)IBA
01/2007
1AntioxidantsIBA
01/2007
1Insulin-Like PeptidesIBA
01/2007
1Liver GlycogenIBA
01/2007