Found: 31
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Generation of Trophoblast Organoids from Chorionic Villus Sampling.
- Published in:
- Organoids, 2024, v. 5, n. 1, p. 54, doi. 10.3390/organoids3010005
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- Publication type:
- Article
An Audit of Second-Trimester Fetal Anomaly Scans Based on a Novel Image-Scoring Method in the Southwest Region of the Netherlands.
- Published in:
- Journal of Ultrasound in Medicine, 2017, v. 36, n. 6, p. 1171, doi. 10.7863/ultra.16.06055
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- Publication type:
- Article
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1642, doi. 10.1002/jbmr.4639
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- Publication type:
- Article
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.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 401, doi. 10.1002/pd.6499
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- Publication type:
- Article
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 2, p. 162, doi. 10.1002/pd.6205
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- Publication type:
- Article
Factors associated with poor outcome in fetuses prenatally diagnosed with sacrococcygeal teratoma.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 11, p. 1430, doi. 10.1002/pd.6026
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- Publication type:
- Article
Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.
- Published in:
- 2020
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- Publication type:
- case study
Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
- Published in:
- 2019
- By:
- Publication type:
- letter
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
- Published in:
- Prenatal Diagnosis, 2018, v. 38, n. 12, p. 911, doi. 10.1002/pd.5354
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- Publication type:
- Article
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
- Published in:
- 2018
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- Publication type:
- journal article
Inequalities in uptake of prenatal screening according to ethnicity and socio-economic status in the four largest cities of the Netherlands (2011-2013).
- Published in:
- 2017
- By:
- Publication type:
- journal article
Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Fetal anemia caused by the Guadalajara variant of G6PD deficiency.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009)
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009).
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 3, p. 259, doi. 10.1002/pd.4302
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- Publication type:
- Article
Liver function following pregnancy complicated by the HELLP syndrome.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1998, v. 105, n. 11, p. 1208, doi. 10.1111/j.1471-0528.1998.tb09977.x
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- Publication type:
- Article
Localization of glutathione S-transferases α and π in human embryonic tissues at 8 weeks gestational age.
- Published in:
- Human Reproduction, 1998, v. 13, n. 5, p. 1380, doi. 10.1093/humrep/13.5.1380
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- Publication type:
- Article
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
- Published in:
- Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00657-x
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- Publication type:
- Article
Glutathione S-transferase alpha levels in epileptic and healthy women preconceptionally and throughout pregnancy.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Ethnicity and Language Proficiency Differences in the Provision of and Intention to Use Prenatal Screening for Down’s Syndrome and Congenital Anomalies. A Prospective, Non-selected, Register-Based Study in the Netherlands.
- Published in:
- Maternal & Child Health Journal, 2018, v. 22, n. 3, p. 343, doi. 10.1007/s10995-017-2364-2
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- Publication type:
- Article
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00525-y
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- Publication type:
- Article
Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0279-z
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- Publication type:
- Article
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0253-9
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- Publication type:
- Article
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 6, p. 1106, doi. 10.1111/aogs.14053
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- Publication type:
- Article
Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 880, doi. 10.1002/humu.23232
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- Publication type:
- Article
A de novo GLI 3 mutation in a patient with acrocallosal syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1394, doi. 10.1002/ajmg.a.35874
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- Publication type:
- Article
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1376, doi. 10.1002/ajmg.a.35858
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- Publication type:
- Article
Another Rare Prenatal Case of Post- Zygotic Mosaic Trisomy 17.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1196, doi. 10.1002/ajmg.a.35867
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- Publication type:
- Article
Social and medical need for whole genome high resolution NIPT.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1062
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- Publication type:
- Article
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0146794
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- Publication type:
- Article