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1Academic Journal
المؤلفون: 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.
المصدر: 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.14256
مصطلحات موضوعية: cell free DNA screening, copy number variant analysis, fetal fraction, non-invasive prenatal screening, unbalanced translocation, CELL-FREE DNA, ABNORMAL KARYOTYPES, FETAL DNA, FRACTION, PLASMA, WOMEN
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2Academic Journal
المؤلفون: Van Opstal, A.R.M. (Diane), Eggenhuizen, G.M. (Geerke M.), Joosten, A-M.S (Marieke), Diderich, K.E.M. (Karin), Govaerts, L.C. (Lutgarde), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Knapen, M.F.C.M. (Maarten), Boter, M. (Marjan), Cheung, W.Y. (Wai Y.), van Koetsveld, N. (Nicole), van Veen, S. (Stefanie), de Valk, W.G. (Walter G.), Jehee, F.S. (Fernanda), Vries, F.A.T. (Femke) de, Hollink, I.H.I.M. (Iris), Hoefsloot, E.H. (Lies), Srebniak, M.I. (Malgorzata)
المصدر: Prenatal Diagnosis vol. 40 no. 10, pp. 1338-1342
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/134926; urn:hdl:1765/134926
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3
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, 1140-1152مصطلحات 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
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4Electronic Resource
المؤلفون: Prooyen Schuurman, L. van, Sistermans, E.A., Opstal, D. Van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, Katelijne, Munnik, S.A. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A., Hoffer, M.J.V., Joosten, Marieke, 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., Macville, M.V.E., Galjaard, R.H.
المصدر: American Journal of Human Genetics; 1140; 1152; 0002-9297; 6; 109; ~American Journal of Human Genetics~1140~1152~~~0002-9297~6~109~~
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5Academic Journal
المؤلفون: Jenkins, D., Baynam, G., De Catte, L., Elcioglu, N., Gabbett, M.T., Hudgins, L., Hurst, J.A., Jehee, F.S., Oley, C., Wilkie, A.O.M.
وصف الملف: pdf
Relation: ispartof: Human Mutation spage E2069 epage E2078 issue 4 vol 32; WOS:000288464100002; http://dx.doi.org/10.1002/humu.21457; 991005542134207891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Carpenter-syndrome-Extended-RAB23-mutation-spectrum/991005542134207891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135676530007891/13137013230007891; alma:61MUN_INST/bibs/991005542134207891
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6
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.2019.10.005مصطلحات 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
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7Book
المؤلفون: Passos-Bueno, M.R., Fanganiello, R.D., Jehee, F.S.
المصدر: Monographs in Human Genetics ; Craniosynostoses ; page 152-164 ; ISSN 0077-0876 1662-3835 ; ISBN 9783805595940 9783805595957
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8Academic Journal
المؤلفون: Vissers, L.E.L.M., Cox, T.C., Maga, A.M., Short, K.M., Wiradjaja, F., Janssen, I.M., Jehee, F.S., Bertola, D., Liu, J., Yagnik, G., Sekiguchi, K., Kiyozumi, D., Bokhoven, J.H.L.M. van, Marcelis, C.L.M., Cunningham, M.L., Anderson, P.J., Boyadjiev, S.A., Passos-Bueno, M.R., Veltman, J.A., Smyth, I., Buckley, M.F., Roscioli, T.
المصدر: Plos Genetics, 7, 9, pp. e1002278-e1002278
مصطلحات موضوعية: DCN 2: Functional Neurogenomics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/95954/95954.pdf; http://hdl.handle.net/2066/95954
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9Academic Journal
المؤلفون: Lugtenberg, D., Zangrande-Vieira, L., Kirchhoff, M., Whibley, A.C., Oudakker, A.R., Kjaergaard, S., Vianna-Morgante, A.M., Kleefstra, T., Ruiter, E.M., Jehee, F.S., Ullmann, R., Schwartz, C.E., Stratton, M., Raymond, F.L., Veltman, J.A., Vrijenhoek, T., Pfundt, R., Schuurs-Hoeijmakers, J.H.M., Hehir, J.Y., Froyen, G., Chelly, J., Ropers, H.H., Moraine, C., Gecz, J., Knijnenburg, J., Kant, S.G., Hamel, B.C.J., Rosenberg, C., Bokhoven, J.H.L.M. van, Brouwer, A.P.M. de
المصدر: American Journal of Medical Genetics. Part A, 152A, 3, pp. 638-45
مصطلحات موضوعية: DCN 2: Functional Neurogenomics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCMLS 6: Genetics and epigenetic pathways of disease
Relation: http://hdl.handle.net/2066/89448
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10Academic Journal
المؤلفون: Jehee, F.S., Krepischi-Santos, A.C., Rocha, K.M., Cavalcanti, D.P., Kim, C.A., Bertola, D.R., Alonso, L.G., D'Angelo, C.S., Mazzeu, J.F., Froyen, G., Lugtenberg, D., Vianna-Morgante, A.M., Rosenberg, C., Passos-Bueno, M.R.
المصدر: Journal of Medical Genetics, 45, 7, pp. 447-50
مصطلحات موضوعية: UMCN 5.1: Genetic defects of metabolism
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11Academic Journal
المؤلفون: Krepischi-Santos, A.C.V., Vianna-Morgante, A.M., Jehee, F.S., Passos-Bueno, M.R., Knijnenburg, J., Szuhai, K., Sloos, W., Mazzeu, J.F., Kok, F., Cheroki, C., Otto, P.A., Mingroni-Netto, R.C., Varela, M., Koiffmann, C., Kim, C.A., Bertola, D.R., Pearson, P.L., Rosenberg, C.
المصدر: Cytogenetic and Genome Research ; volume 115, issue 3-4, page 254-261 ; ISSN 1424-8581 1424-859X