المؤلفون: Schuurman, L.V., Sistermans, E.A., Opstal, D. van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, K., Munnik, S. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A.T.J.I., Hoffer, M.J.V., Joosten, M., Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M.F.C.M., Macville, M.V.E., Galjaard, R.J.H., Dutch NIPT Consortium

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Obstetrics and gynaecology, Pathology, Rehabilitation medicine, APH - Quality of Care, Obstetrics and Gynaecology, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Public Health, Clinical Genetics, Obstetrics & Gynecology, Department of Psychology, Education and Child Studies, Clinical genetics, Amsterdam Reproduction & Development, Emergency Medicine, Research Methods and Techniques, RS: GROW - R4 - Reproductive and Perinatal Medicine, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), MUMC+: DA KG AIOS (9)

المصدر: American journal of human genetics, 109(6), 1140-1152. Cell Press
American Journal of Human Genetics, 109(6), 1140-1152. CELL PRESS
American Journal of Human Genetics, 109, 6, pp. 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. Cell Press
Dutch NIPT Consortium 2022, ' Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing : Follow-up results of the TRIDENT-2 study ', American journal of human genetics, vol. 109, no. 6, pp. 1140-1152 . https://doi.org/10.1016/j.ajhg.2022.04.018
American Journal of Human Genetics, 109(7). Cell Press
American Journal of Human Genetics, 109, 1140-1152

مصطلحات موضوعية: Placenta, Trisomy, first tier test, Cohort Studies, genome-wide, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, Genetics, Humans, cfDNA, Genetics (clinical), confined placental mosaicism, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Mosaicism, Other Research Radboud Institute for Health Sciences [Radboudumc 0], NIPS, fetal trisomy, PREECLAMPSIA, common trisomies, prenatal screening, CELL-FREE DNA, Female, NIPT, Follow-Up Studies, rare autosomal trisomies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f185a21074eaaeaf5f9da3fa138556
https://doi.org/10.1016/j.ajhg.2022.04.018

المؤلفون: Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 3, p 50 (2021)

مصطلحات موضوعية: next generation sequencing, newborn screening, neonatal screening, first-tier test, second-tier test, tandem mass spectrometry, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/7/3/50; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/e2d3d02166b1482183928729f9ccf7df

المؤلفون: van der Meij, Karuna Rosa Mariyah

المساهمون: Henneman, Lidewij, Cornel, M.C., Sistermans, E.A., Weiss, Marjan, VU University medical center, Human genetics, Cornel, Martina, VUmc - School of Medical Sciences, Sistermans, Erik, Weiss, Janneke, Amsterdam Reproduction & Development (AR&D)

المصدر: van der Meij, KRM 2022, ' Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program ', Doctor of Philosophy, Vrije Universiteit Amsterdam, Amsterdam . < https://research.vu.nl/en/publications/implementing-genome-wide-non-invasive-prenatal-testing-in-a-natio >
van der Meij, K R M 2022, ' Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program ', PhD, Vrije Universiteit Amsterdam, Amsterdam .

مصطلحات موضوعية: women's perspectives, genoombreed, prenatale screening, implementatie, perspectieven van vrouwen, genome-wide, first-tier test, SDG 3 - Good Health and Well-being, prenatal screening, eerste screeningstest, implementation, NIPT

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7ccd4a2c568c420e490d0b3fa798726e
https://research.vu.nl/en/publications/implementing-genome-wide-non-invasive-prenatal-testing-in-a-natio

مصطلحات موضوعية: genome-wide, women's perspectives, genoombreed, prenatale screening, first-tier test, SDG 3 - Good Health and Well-being, prenatal screening, eerste screeningstest, implementation, implementatie, NIPT, perspectieven van vrouwen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4612::64d6f21ed7df78b65563af1ae4de2d1e
https://research.vu.nl/en/publications/2c0b98be-1e68-4157-8395-2d0a6a3b1ff2

المؤلفون: Marie Bækvad-Hansen, Flemming Wibrand, Rikke Katrine Jentoft Olsen, David M. Hougaard, Kristin Skogstrand, Allan M. Lund, Morten Duno, Niels Gregersen, Brage S. Andresen

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 50, p 50 (2021)
International Journal of Neonatal Screening
Lund, A M, Wibrand, F, Skogstrand, K, Bækvad-Hansen, M, Gregersen, N, Andresen, B S, Hougaard, D M, Dunø, M & Olsen, R K J 2021, ' Use of molecular genetic analyses in danish routine newborn screening ', International Journal of Neonatal Screening, vol. 7, no. 3, 50 . https://doi.org/10.3390/IJNS7030050
Volume 7
Issue 3

مصطلحات موضوعية: Newborn screening, 0301 basic medicine, Tandem mass spectrometry, Computer science, Population, Computational biology, 030105 genetics & heredity, second-tier test, Pediatrics, Article, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Targeted ngs, Next generation sequencing, tandem mass spectrometry, neonatal screening, education, Therapeutic strategy, next generation sequencing, First-tier test, education.field_of_study, newborn screening, Molecular genetic testing, Obstetrics and Gynecology, food and beverages, Second-tier test, Biomarker (cell), Workflow, first-tier test, Pediatrics, Perinatology and Child Health, embryonic structures, False positive rate, Neonatal screening, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028e16b2c4c83805efa15bcf63e1a9ad
https://www.mdpi.com/2409-515X/7/3/50

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المؤلفون: Held, K.R., Kähler, C., Kerber, S., Auber, B.

المصدر: medizinische genetik. June 2012 24(2):108-113

المؤلفون: Meij, K.R.M. van der, Sistermans, E.A., Macville, M.V.E., Stevens, S.J.C., Bax, C.J., Bekker, M.N., Bilardo, C.M., Boon, E.M.J., Boter, M., Diderich, K.E.M., Die-Smulders, C.E.M. de, Duin, L.K., Faas, B.H.W., Feenstra, I., Haak, M.C., Hoffer, M.J.V., Hollander, N.S. den, Hollink, I.H.I.M., Jehee, F.S., Knapen, M.F.C.M., Kooper, A.J.A., Langen, I.M. van, Lichtenbelt, K.D., Linskens, I.H., Maarle, M.C. van, Oepkes, D., Pieters, M.J., Schuring-Blom, G.H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D.F.C.M., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Ven, A.J.E.M. van der, Zelderen-Bhola, S.L. van, Henneman, L., Galjaard, R.J.H., Opstal, D. van, Weiss, M.M., Dutch NIPT Consortium

المساهمون: Health Psychology Research (HPR), Reproductive Origins of Adult Health and Disease (ROAHD), Obstetrics and Gynaecology, Human Genetics, Clinical Genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, Obstetrics and gynaecology, APH - Quality of Care

المصدر: American Journal of Human Genetics, 105(6), 1091-1101. CELL PRESS
American Journal of Human Genetics, 105, 6, pp. 1091-1101
American journal of human genetics, 105(6), 1091-1101. Cell Press
American Journal of Human Genetics, 105, 1091-1101
Am J Hum Genet
American Journal of Human Genetics, 105(6), 1091. Cell Press
American Journal of Human Genetics, 105(6), 1091-1101. Cell Press
van der Meij, K R M, Sistermans, E A, Macville, M V E, Stevens, S J C, Bax, C J, Bekker, M N, Bilardo, C M, Boon, E M J, Boter, M, Diderich, K E M, de Die-Smulders, C E M, Duin, L K, Faas, B H W, Feenstra, I, Haak, M C, Hoffer, M J V, den Hollander, N S, Hollink, I H I M, Jehee, F S, Knapen, M F C M, Kooper, A J A, van Langen, I M, Lichtenbelt, K D, Linskens, I H, van Maarle, M C, Oepkes, D, Pieters, M J, Schuring-Blom, G H, Sikkel, E, Sikkema-Raddatz, B, Smeets, D F C M, Srebniak, M I, Suijkerbuijk, R F, Tan-Sindhunata, G M, van der Ven, A J E M, van Zelderen-Bhola, S L, Henneman, L, Galjaard, R J H, Van Opstal, D, Weiss, M M & The Dutch NIPT Consortium 2019, ' TRIDENT-2 : National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands ', American journal of human genetics, vol. 105, no. 6, pp. 1091-1101 . https://doi.org/10.1016/j.ajhg.2019.10.005

مصطلحات موضوعية: 0301 basic medicine, Trisomy 13 Syndrome, IMPACT, 030105 genetics & heredity, genome-wide, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, Down Syndrome/diagnosis, Genetics(clinical), DOWN-SYNDROME, Young adult, cfDNA, First, Genetics (clinical), Netherlands, Trisomy 13 Syndrome/diagnosis, Genome, 030219 obstetrics & reproductive medicine, Obstetrics, implementation study, Middle Aged, Prognosis, fetal trisomy, common trisomies, Parental anxiety, CELL-FREE DNA, Christian ministry, Female, Pregnancy Trimester, HEALTH, Genetic Testing/methods, PREGNANT-WOMEN, Human, rare autosomal trisomies, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Screening test, Adolescent, first tier test, Netherlands/epidemiology, Prenatal care, ORGANIZATION, Article, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, medicine, Genetics, Journal Article, Humans, Genetic Testing, Trisomy 18 Syndrome/diagnosis, Chromosome Aberrations, business.industry, Genome, Human, Non invasive, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Health Plan Implementation, medicine.disease, NIPS, Pregnancy Trimester, First, prenatal screening, EXPERIENCE, Down Syndrome, Trisomy, business, NIPT, Trisomy 18 Syndrome, Follow-Up Studies

وصف الملف: application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45f1a4d1a35934f9843790dea681e84
https://research.rug.nl/en/publications/d271c078-0838-49e9-b013-1c599c10dfd3

المؤلفون: The Dutch NIPT Consortium

مصطلحات موضوعية: genome-wide, fetal trisomy, NIPS, common trisomies, implementation study, prenatal screening, Genetics, Journal Article, first tier test, Genetics(clinical), cfDNA, NIPT, rare autosomal trisomies

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10691::e39a045cc5a1ddf8da80da9406cc5a8b
https://dspace.library.uu.nl/handle/1874/391908

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