المؤلفون: Opstal, D. van, Maarle, M.C. van, Lichtenbelt, K., Weiss, M.M., Schuring-Blom, H., Bhola, S.L., Hoffer, M.J.V., Huijsdens-van Amsterdam, K., Macville, M.V., Kooper, A.J.A., Faas, B.H.W., Govaerts, L., Tan-Sindhunata, G.M., Hollander, N. den, Feenstra, I., Galjaard, R.J.H., Oepkes, D., Ghesquiere, S., Brouwer, R.W.W., Beulen, L., Bollen, S., Elferink, M.G., Straver, R., Henneman, L., Page-Christiaens, G.C., Sistermans, E.A., Dutch NIPT Consortium

المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Human Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Quality of Care, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Genetics, Cell biology

المصدر: Genetics in Medicine, 20, 480-485
Genetics in Medicine
Genetics in Medicine, 20(5), 480-485. Nature Publishing Group
Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132
Genetics in Medicine, 20, 5, pp. 480-485
Genetics in Medicine, 20(5), 480-485
Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins

مصطلحات موضوعية: 0301 basic medicine, CVS MOSAICISM, FETAL DNA, Placenta, DUTCH LABORATORIES, MATERNAL MALIGNANCIES, Aneuploidy, noninvasive testing, Chromosome Disorders, Trisomy, genome-wide NIPS, Bioinformatics, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, TERM PLACENTAE, Original Research Article, Confined placental mosaicism, Genetics (clinical), confined placental mosaicism, 030219 obstetrics & reproductive medicine, ANEUPLOIDIES, Pregnancy Outcome, Genomics, ASSOCIATION, trisomy 21, CONFIRMATION, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Cell-free fetal DNA, CELL-FREE DNA, Female, Genetic Testing/methods, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, DNA Copy Number Variations, Prenatal diagnosis, Chromosome aberration, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Placenta/metabolism, Humans, Genetic Testing, PRENATAL-DIAGNOSIS, Gynecology, Chromosome Aberrations, Autosome, Whole Genome Sequencing, business.industry, ANEUPLOIDY, Chromosome Disorders/diagnosis, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Chromosome, medicine.disease, Genomics/methods, 030104 developmental biology, prenatal screening, business, FOLLOW-UP

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9f4b55db7b9010c8cbd85795a63ee1
https://doi.org/10.1038/gim.2017.132

المؤلفون: Straver, R.

المساهمون: Meijers-Heijboer, Hanne, Reinders, M.J.T., Sistermans, Erik, Clinical genetics, Meijers-Heijboer, E.J., Sistermans, E.A.

المصدر: Straver, R 2018, ' Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics ', PhD, Vrije Universiteit Amsterdam .
Straver, R 2018, ' Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics ', Doctor of Philosophy, Vrije Universiteit Amsterdam .

مصطلحات موضوعية: Bioinformatics, Within-sample comparison, Testing, CNV, Trisomy, Noninvasive, Fetal fraction, Chromosomal aberration, NIPD, Monosomy, Fetal DNA, Next generation sequencing, Prenatal, High throughput sequencing, cfDNA, FRA10B, Diagnostics, SANEFALCON, Cell free DNA, Liquid biopsy, Copy number variation, WISECONDOR, Whole exome sequencing, Aneuploidy, cffDNA, Low coverage, NIPS, DEFRAG, Nucleosome, Whole genome sequencing, Screening, WISExome, Fragile sites, NIPT

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6efec83da43b9a33b71557dfcb82ff44
https://research.vu.nl/ws/files/58754087/cover.pdf

المؤلفون: Straver, R., Sloot, S., Vosters, N., Sperna Weiland, Aleid

المصدر: None

مصطلحات موضوعية: kwaliteitszorg, reclassering, clienttevredenheid, klantgerichtheid

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::c7a2cd7016a90e86e3c171bdb07bbdc9
https://surfsharekit.nl/public/0d79d367-2acf-4d06-bdf8-432cf411663c

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