Found: 25
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Fetal Mediastinal Tumor of Neuroepithelial Origin in a Case of Missed Abortion.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 8, p. 1564, doi. 10.1111/aogs.14898
- By:
- Publication type:
- Article
Preimplantation genetic testing practices in the Nordic countries.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Preimplantation genetic testing legislation and accessibility in the Nordic countries.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Towards a new era in fetal medicine in the Nordic countries.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
- By:
- Publication type:
- Article
Fetal Membrane Cells for Treatment of Steroid-Refractory Acute Graft-Versus-Host Disease.
- Published in:
- Stem Cells, 2013, v. 31, n. 3, p. 592, doi. 10.1002/stem.1314
- By:
- Publication type:
- Article
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1134, doi. 10.1038/ng2086
- By:
- Publication type:
- Article
Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 13, p. 1038, doi. 10.1002/1097-0223(200012)20:13<1038::AID-PD976>3.0.CO;2-8
- By:
- Publication type:
- Article
Fetal Calcifications Are Associated with Chromosomal Abnormalities.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123343
- By:
- Publication type:
- Article
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085313
- By:
- Publication type:
- Article
Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases.
- Published in:
- Fetal Diagnosis & Therapy, 2014, v. 36, n. 4, p. 326, doi. 10.1159/000361017
- By:
- Publication type:
- Article
Confined placental mosaicism of Duchenne muscular dystrophy: a case report.
- Published in:
- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00520-3
- By:
- Publication type:
- Article
Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.
- Published in:
- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05843-5
- By:
- Publication type:
- Article
Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 447, doi. 10.1007/s10897-016-9997-y
- By:
- Publication type:
- Article
Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0155-2
- By:
- Publication type:
- Article
On the paternal origin of trisomy 21 Downsyndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2010, v. 3, p. 4, doi. 10.1186/1755-8166-3-4
- By:
- Publication type:
- Article
Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156088
- By:
- Publication type:
- Article
Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Comment on 'Origin of trisomy: no evidence to support the ovarian mosaicism theory'.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1221, doi. 10.1002/pd.3958
- By:
- Publication type:
- Article
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
- Published in:
- PLoS ONE, 2019, v. 14, n. 01, p. 1, doi. 10.1371/journal.pone.0210017
- By:
- Publication type:
- Article
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in <italic>PLOD2</italic>.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 4, p. 753, doi. 10.1002/jbmr.3348
- By:
- Publication type:
- Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
- By:
- Publication type:
- Article