المؤلفون: Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak

المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Recurrent pregnancy loss, NIPT, Karyotyping, Balanced translocation, cfDNA, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/573fec928f5943d997613f1736ffc140Test

المؤلفون: Ellis L. Eikenboom, Saskia M. Wilting, Teoman Deger, Malgorzata I. Srebniak, Monique Van Veghel-Plandsoen, Ruben G. Boers, Joachim B. Boers, Wilfred F. J. van IJcken, Joost H. Gribnau, Peggy Atmodimedjo, Hendrikus J. Dubbink, John W. M. Martens, Manon C. W. Spaander, Anja Wagner

المصدر: Cancers, Vol 15, Iss 18, p 4607 (2023)

مصطلحات موضوعية: cfDNA, ctDNA, genome-wide methylation, Lynch syndrome, advanced adenoma, screening, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/15/18/4607Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/30da3abd2f964760a566d0d16b3c15e6Test

المؤلفون: Iris J. M. Levink, Malgorzata I. Srebniak, Walter G. De Valk, Monique M. van Veghel-Plandsoen, Anja Wagner, Djuna L. Cahen, Gwenny M. Fuhler, Marco J. Bruno

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 6, p 5097 (2023)

مصطلحات موضوعية: cfDNA, copy number variant, CNV, liquid biopsy, NIPT, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/6/5097Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/357257056d53474c97692775cb0fa641Test

المؤلفون: Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Lies H. Hoefsloot, Diane Van Opstal

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: diagnostic yield, microarray, NIPT, patients preferences, prenatal diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/d6068b137b094e27a8999c4d69bcc379Test

المؤلفون: Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak

المساهمون: Clinical Genetics, Department of Psychology, Education and Child Studies, Emergency Medicine, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Application of Clinical Genetics, 16, 89-97. Dove Medical Press Ltd.
Diderich, K E M, Klapwijk, J E, van der Schoot, V, Brüggenwirth, H T, Joosten, M & Srebniak, M I 2023, ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ', Application of Clinical Genetics, vol. 16, pp. 89-97 . https://doi.org/10.2147/TACG.S411185Test

مصطلحات موضوعية: The Application of Clinical Genetics, Genetics, Genetics (clinical)

وصف الملف: application/pdf; text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b502c0b657e9ec63ddb24277ef76ef1Test
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537Test

المؤلفون: Diane Van Opstal, Merryn V. E. Macville, Marjan Boter, Fernanda Sarquis Jehee, Shama Bhola, Malgorzata I. Srebniak, Robert van der Helm, Erik A. Sistermans, Nicolette S. den Hollander, Els Voorhoeve, Mariëtte J.V. Hoffer, Marieke Joosten, Walter G. de Valk

المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Clinical Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. WILEY
Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W G, van der Helm, R, Sistermans, E A, Voorhoeve, E, Bhola, S, Hoffer, M J V, den Hollander, N, Macville, M V E & van Opstal, D 2021, ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ', Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 11, pp. 2036-2043 . https://doi.org/10.1111/aogs.14256Test, https://doi.org/10.1111/aogs.14256Test
Acta Obstetricia et Gynecologica Scandinavica

مصطلحات موضوعية: cell free DNA screening, copy number variant analysis, FETAL DNA, Noninvasive Prenatal Testing, Aneuploidy, Chromosomal translocation, Prenatal diagnosis, Bioinformatics, Translocation, Genetic, FRACTION, Pregnancy, fetal fraction, medicine, Humans, Retrospective Studies, Chromosome Aberrations, Fetus, PLASMA, Microarray analysis techniques, business.industry, Non invasive, Infant, Newborn, Pregnancy Outcome, Obstetrics and Gynecology, WOMEN, General Medicine, medicine.disease, non-invasive prenatal screening, medicine.anatomical_structure, Go/no go, Karyotyping, CELL-FREE DNA, ABNORMAL KARYOTYPES, Chorionic villi, unbalanced translocation, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26adf92fc5ff9fc236e95ef8a51ce39cTest
https://doi.org/10.1111/aogs.14256Test

المؤلفون: Kelly E. Ormond, Sam Riedijk, Malgorzata I. Srebniak, Hennie T. Brüggenwirth, Karin E. M. Diderich, Stina Lou, Melissa Hill, Jennifer Hammond, Celine Lewis, Attie T.J.I. Go, Jasmijn E. Klapwijk, Ida Vogel, Lutgarde C.P. Govaerts

المصدر: Klapwijk, J E, Srebniak, M I, Go, A T J I, Govaerts, L C P, Lewis, C, Hammond, J, Hill, M, Lou, S, Vogel, I, Ormond, K E, Diderich, K E M, Brüggenwirth, H T & Riedijk, S R 2021, ' How to deal with uncertainty in prenatal genomics : A systematic review of guidelines and policies ', Clinical Genetics, vol. 100, no. 6, pp. 647-658 . https://doi.org/10.1111/cge.14010Test
Clinical Genetics

مصطلحات موضوعية: medicine.medical_specialty, Genetic counseling, health planning guidelines, Clinical Decision-Making, MEDLINE, Reviews, Prenatal diagnosis, Review, whole exome sequencing, chromosomal microarray, Pregnancy, Multidisciplinary approach, Genetics, medicine, Humans, Genetic Predisposition to Disease, Medical physics, uncertainty, Genetic Association Studies, Genetics (clinical), Health policy, Genetic testing, practice guidelines, prenatal diagnosis, medicine.diagnostic_test, Health Policy, Uncertainty, Disease Management, health policy, Genomics, Data sharing, Data extraction, Practice Guidelines as Topic, Female, Psychology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a55443e7983119214c6e93d4f62d14Test
https://doi.org/10.1111/cge.14010Test

المؤلفون: Grazia M.S. Mancini, Kathleen Romijn, Alice S. Brooks, Hennie T. Brüggenwirth, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lutgarde C.P. Govaerts, Joan N.R. Kromosoeto, Malgorzata I. Srebniak, Robert-Jan H. Galjaard, Marike Polak, Diane Van Opstal, Attie T.J.I. Go, Yolande van Bever, Lies H. Hoefsloot, Marieke Joosten, Martina Wilke, Maarten F. C. M. Knapen, Karin E. M. Diderich

المساهمون: Clinical Genetics, Research Methods and Techniques, Obstetrics & Gynecology

المصدر: Acta Obstetricia et Gynecologica Scandinavica, 100(6), 1-10. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica

مصطلحات موضوعية: Adult, medicine.medical_specialty, Microarray, Genetic counseling, Chromosome Disorders, Prenatal diagnosis, Ultrasonography, Prenatal, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Exome Sequencing, ultrasound anomalies, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Original Research Article, fetal anomalies, 030212 general & internal medicine, Exome, Exome sequencing, Retrospective Studies, prenatal whole exome sequencing testing, Fetus, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Genetic disorder, Obstetrics and Gynecology, Retrospective cohort study, General Medicine, medicine.disease, Fetal Diseases, diagnostic yield, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ae4bf0f35164bb766af6f4fd8ffc0bTest
https://hdl.handle.net/1765/132863Test

المؤلفون: Malgorzata I. Srebniak, Sander Galjaard, Karin E. M. Diderich, Diane Van Opstal, Maarten F. C. M. Knapen, Marieke Joosten

المساهمون: Clinical Genetics, Obstetrics & Gynecology

المصدر: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-4 (2021)
Molecular Cytogenetics
Mol. Cytogenet., 14(1):4

مصطلحات موضوعية: 0301 basic medicine, First trimester, medicine.medical_specialty, lcsh:QH426-470, Genetic counseling, Fetal anomaly scan, 030105 genetics & heredity, Maternal blood, Fetal anomaly, Biochemistry, Chromosome aberration, 03 medical and health sciences, 0302 clinical medicine, Genetics, Medicine, Molecular Biology, Genetics (clinical), 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Biochemistry (medical), Prenatal screening, Hypothesis, medicine.disease, lcsh:Genetics, Outpatient visits, Molecular Medicine, business, Trisomy, NIPT

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0b2df41ced77aa4bdf0c6f2d7a15702Test
https://doaj.org/article/6bb8c9def765444cb251c1b4b9f18f31Test

المؤلفون: Yolande van Bever, Irene A. L. Groenenberg, Maarten F. C. M. Knapen, Arianne B. Dessens, Sabine E. Hannema, Katja P. Wolffenbuttel, Karin E. M. Diderich, Lies H. Hoefsloot, Malgorzata I. Srebniak, Hennie T. Bruggenwirth

المساهمون: Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Obstetrics & Gynecology, Child and Adolescent Psychiatry / Psychology, Urology, Amsterdam Reproduction & Development

المصدر: Prenatal Diagnosis. John Wiley and Sons Ltd
Prenatal Diagnosis, 43(2), 162-182. John Wiley & Sons Ltd.
van Bever, Y, Groenenberg, I A L, Knapen, M F C M, Dessens, A B, Hannema, S E, Wolffenbuttel, K P, Diderich, K E M, Hoefsloot, L H, Srebniak, M I & Bruggenwirth, H T 2022, ' Prenatal ultrasound finding of atypical genitalia : Counseling, genetic testing and outcomes ', Prenatal Diagnosis . https://doi.org/10.1002/pd.6205Test

مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb72235544b2c6fe83df591e6e231c9Test
https://research.vumc.nl/en/publications/90ee65ce-fe49-444f-a4e4-1cca0db254f4Test