المؤلفون: Corsten-Janssen, N, Bouman, K, Diphoorn, J C D, Scheper, A J, Kinds, R, El Mecky, J, Breet, H, Verheij, J B G M, Suijkerbuijk, R, Duin, L K, Manten, G T R, van Langen, I M, Sijmons, R H, Sikkema-Raddatz, B, Westers, H, van Diemen, C C

المصدر: Corsten-Janssen , N , Bouman , K , Diphoorn , J C D , Scheper , A J , Kinds , R , El Mecky , J , Breet , H , Verheij , J B G M , Suijkerbuijk , R , Duin , L K , Manten , G T R , van Langen , I M , Sijmons , R H , Sikkema-Raddatz , B , Westers , H & van Diemen , C C 2020 , ' A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/87334dbf-bc3b-4511-963a-66c5ae7aad5cTest

الإتاحة: https://doi.org/10.1002/pd.5781Test
https://hdl.handle.net/11370/87334dbf-bc3b-4511-963a-66c5ae7aad5cTest
https://research.rug.nl/en/publications/87334dbf-bc3b-4511-963a-66c5ae7aad5cTest
https://pure.rug.nl/ws/files/151472886/A_prospective_study_on_rapid_exome_sequencing_as_a_diagnostic_test_for_multiple_congenital_anomalies_on_fetal_ultrasound.pdfTest

المؤلفون: Johansson, L. F., de Boer, E. N., de Weerd, H. A., van Dijk, F., Elferink, M. G., Schuring-Blom, G. H., Suijkerbuijk, R. F., Sinke, R. J., te Meerman, G. J., Sijmons, R. H., Swertz, M. A., Sikkema-Raddatz, B.

المصدر: Johansson , L F , de Boer , E N , de Weerd , H A , van Dijk , F , Elferink , M G , Schuring-Blom , G H , Suijkerbuijk , R F , Sinke , R J , te Meerman , G J , Sijmons , R H , Swertz , M A & Sikkema-Raddatz , B 2017 , ' Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing ' , Scientific Reports , vol. 7 , no. 1 , 1838 . https://doi.org/10.1038/s41598-017-02031-5Test

مصطلحات موضوعية: CELL-FREE DNA, MATERNAL PLASMA, FETAL DNA, ANEUPLOIDY, DIAGNOSIS, BLOOD, AMPLIFICATION, TRISOMY-18, ALIGNMENT, BIAS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/5f20f8ef-1a74-486c-a3a0-4c975d661c46Test

الإتاحة: https://doi.org/10.1038/s41598-017-02031-5Test
https://hdl.handle.net/11370/5f20f8ef-1a74-486c-a3a0-4c975d661c46Test
https://research.rug.nl/en/publications/5f20f8ef-1a74-486c-a3a0-4c975d661c46Test
https://pure.rug.nl/ws/files/47381845/Novel_Algorithms_for_Improved_Sensitivity_in_Non_Invasive_Prenatal_Testing.pdfTest

المؤلفون: Oepkes, D., Page-Christiaens, G.C.L. (G. C. Lieve), Bax, C.J. (Caroline), Bekker, M.N. (Mireille), Bilardo, C.M. (Caterina Maddalena), Boon, E.M.J. (Elles ), Schuring-Blom, G.H. (Heleen), Coumans, A. (Audrey), Faas, B.H.W. (Brigitte), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Henneman, L. (Lidewij), Macville, M.V.E. (Merryn), Pajkrt, E. (Eva), Suijkerbuijk, R. (Ron), Huijsdens-van Amsterdam, K. (Karin), Van Opstal, A.R.M. (Diane), Verweij, E.J.J. (E. J. Joanne), Weiss, M.M. (Marjan M.), Sistermans, E.A. (Erik)

المصدر: Prenatal Diagnosis vol. 36 no. 12, pp. 1083-1090

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/94873Test; urn:hdl:1765/94873

الإتاحة: https://doi.org/10.1002/pd.4945Test
http://repub.eur.nl/pub/94873Test

المؤلفون: Corsten-Janssen, N., Bouman, K., Scheper, A. J., Meems-Veldhuis, M. T., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sikkema-Raddatz, B., Westers, H., van Diemen, C. C.

المساهمون: Health Psychology Research (HPR), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: European Journal of Human Genetics, 28(SUPPL 1), 169-170. Nature Publishing Group

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::ebbdeab637978532d32ccc36ff348df8Test
https://research.rug.nl/en/publications/321846ab-a45f-4dcd-b179-df98d4506e07Test

المؤلفون: Van Echten-Arends, J., Coonen, E., Reuters, B., Suijkerbuijk, R. F., Dul, E. C., Land, J. A., van Ravenswaaij-Arts, C. M. A.

المصدر: Van Echten-Arends , J , Coonen , E , Reuters , B , Suijkerbuijk , R F , Dul , E C , Land , J A & van Ravenswaaij-Arts , C M A 2013 , ' Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis ' , Human Reproduction , vol. 28 , no. 11 , pp. 3141-3145 . https://doi.org/10.1093/humrep/det362Test

مصطلحات موضوعية: PGD, misdiagnosis, reciprocal translocation, X-autosome translocation, segregation types

الإتاحة: https://doi.org/10.1093/humrep/det362Test
https://cris.maastrichtuniversity.nl/en/publications/3b6c2262-6d0e-4f9b-aed7-5dc308b4c5bdTest

المؤلفون: Boormans, EMA, Birnie, Erwin, Wildschut, Hajo, Schuring-Blom, GH, Oepkes, D, van Oppen, AC, Nijhuis, JG, Macville, MVE, Kooper, AJA, Huijsdens, K, Hoffer, MVJ, Go, A, Creemers, J, Bhola, SL, Bilardo, KM, Suijkerbuijk, R, Bouman, K, Galjaard, Robert-Jan, Bonsel, Gouke, van Lith, JMM

المصدر: Boormans , EMA , Birnie , E , Wildschut , H , Schuring-Blom , GH , Oepkes , D , van Oppen , AC , Nijhuis , JG , Macville , MVE , Kooper , AJA , Huijsdens , K , Hoffer , MVJ , Go , A , Creemers , J , Bhola , SL , Bilardo , KM , Suijkerbuijk , R , Bouman , K , Galjaard , R-J , Bonsel , G & van Lith , JMM 2008 , ' Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study ' , BMC ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/1471-2393-8-18Test
https://pure.eur.nl/en/publications/82853b3a-5adb-4cad-ab31-311d7da7b05cTest
https://pure.eur.nl/ws/files/46785487/18492228.pdfTest
http://hdl.handle.net/1765/23131Test

المؤلفون: Weiss, M. M., Galjaard, R. H., Sistermans, E. A., Bax, C. J., Bekker, M. N., de Die-Smulders, C. E. M., Feenstra, I., Hoffer, M. J. V., den Hollander, N. S., Knapen, M. F. C. M., van Langen, I. M., Lichtenbelt, K. D., Lombardi, P. M., van Maarle, M. C., van der Meij, K. R. M., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Stevens, S. J., Suijkerbuijk, R. F., van der Ven, A. J. E. M., Van Opstal, D., Henneman, L., Macville, M. V.

المصدر: Weiss , M M , Galjaard , R H , Sistermans , E A , Bax , C J , Bekker , M N , de Die-Smulders , C E M , Feenstra , I , Hoffer , M J V , den Hollander , N S , Knapen , M F C M , van Langen , I M , Lichtenbelt , K D , Lombardi , P M , van Maarle , M C , van der Meij , K R M , Pieters , M J , Schuring-Blom , G H , Sikkel , E , ....

العلاقة: https://research.vumc.nl/en/publications/896257aa-5289-4935-be6e-26f5fddee2d8Test

الإتاحة: https://research.vumc.nl/en/publications/896257aa-5289-4935-be6e-26f5fddee2d8Test

المؤلفون: Mostert, M.M.C. (M. M C), Van De Pol, F. (Francien), Weghuis, D.O. (D. Olde), Suijkerbuijk, R. (Ron), Geurts van Kessel, A.H.M. (Ad), Echten, J. (Jannie) van, Oosterhuis, J.W. (Wolter), Looijenga, L.H.J. (Leendert)

المصدر: Cancer Genetics and Cytogenetics vol. 89 no. 2, pp. 146-152

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/56693Test; urn:hdl:1765/56693

الإتاحة: https://doi.org/10.1016/0165-4608Test(96)00043-X
http://repub.eur.nl/pub/56693Test

المؤلفون: Van Der Burgt, C J, Merkx, G F, Janssen, A H, Mulder, J C, Suijkerbuijk, R F, Smeets, D F

مصطلحات موضوعية: Research Article

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/29/10/739Test; http://dx.doi.org/10.1136/jmg.29.10.739Test

الإتاحة: https://doi.org/10.1136/jmg.29.10.739Test
http://jmg.bmj.com/cgi/content/short/29/10/739Test

المؤلفون: van de Wetering, M, Oosterwegel, M, Holstege, F, Dooyes, D, Suijkerbuijk, R, Geurts van Kessel, A, Clevers, H

المصدر: Journal of Biological Chemistry ; volume 267, issue 12, page 8530-8536 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/s0021-9258Test(18)42476-3
https://api.elsevier.com/content/article/PII:S0021925818424763?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925818424763?httpAccept=text/plainTest