المؤلفون: Olde Keizer, R.A.C.M., Marouane, A., Kerstjens-Frederikse, W.S., Deden, A.C., Lichtenbelt, K.D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L.S., Sinke, R.J., Pfundt, R., Stevens, S.J.C., Andriessen, P., van Lingen, R.A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., van Amstel, H.K.P., de Boode, W.P., van Zelst-Stams, W.A.G., Frederix, G.W.J., Vissers, L.E.L.M., DE Koning, Bart, van den Wijngaard, Arthur, Sinnema, Margje, Stegmann, Alexander, Brunner La Rocca, Hans-Peter

المصدر: Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode ....

مصطلحات موضوعية: Diagnostic workflow, Neonates, Economic evaluation, Clinical utility, Rapid exome sequencing, COSTS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/c05cff91-fccb-4f17-b524-b4a9b44dda30
https://doi.org/10.1007/s00431-023-04909-1

المؤلفون: Deden, C., Neveling, K., Zafeiropopoulou, D., Gilissen, C., Pfundt, R., Rinne, T., de Leeuw, N., Faas, B., Gardeitchik, T., Sallevelt, S.C.E.H., Paulussen, A., Stevens, S.J.C., Sikkel, E., Elting, M.W., van Maarle, M.C., Diderich, K.E.M., Corsten-Janssen, N., Lichtenbelt, K.D., Lachmeijer, G., Vissers, L.E.L.M., Yntema, H.G., Nelen, M., Feenstra, I., van Zelst-Stams, W.A.G.

المصدر: Deden , C , Neveling , K , Zafeiropopoulou , D , Gilissen , C , Pfundt , R , Rinne , T , de Leeuw , N , Faas , B , Gardeitchik , T , Sallevelt , S C E H , Paulussen , A , Stevens , S J C , Sikkel , E , Elting , M W , van Maarle , M C , Diderich , K E M , Corsten-Janssen , N , Lichtenbelt , K D , Lachmeijer , G , Vissers , L E L M , Yntema , H G ....

مصطلحات موضوعية: abnormalities, diagnosis, infants, microarray, utility

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/55168ed2-e706-4c1d-99f6-2a744fa610fb
https://doi.org/10.1002/pd.5717

المؤلفون: Moghadasi, S., Grundeken, V., Janssen, L.A.M., Dijkstra, N.H., Rodríguez‐Girondo, M., van Zelst‐Stams, W.A.G., Oosterwijk, J.C., Ausems, M.G.E.M., Oldenburg, R.A., Adank, M.A., Blom, E.W., Ruijs, M.W.G., van Os, T.A.M., van Deurzen, C.H.M., Martens, J.W.M., Schroder, C.P., Wijnen, J.T., Vreeswijk, M.P.G., van Asperen, C.J.

المساهمون: Netherlands Organization for Scientific Research (NWO), Leiden University Medical Centre, Leids Universiteits Fonds, Simonsfonds

المصدر: Clinical Genetics ; volume 93, issue 1, page 52-59 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13065
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13065
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13065

المؤلفون: Dekker, N., van Rossum, L.G.M., Van Vugt-van Pinxteren, M., van Stiphout, S.H.C., Hermens, R.P.M.G., van Zelst-Stams, W.A.G., van Oijen, M.G.H., Laheij, R.J.F., Jansen, J.B.M.J., Hoogerbrugge, N.

المساهمون: ZonMw – The Netherlands Organization for Health Research and Development

المصدر: European Journal of Cancer ; volume 47, issue 10, page 1571-1577 ; ISSN 0959-8049

الاتاحة: http://dx.doi.org/10.1016/j.ejca.2011.01.022
https://api.elsevier.com/content/article/PII:S0959804911000670?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0959804911000670?httpAccept=text/plain

المؤلفون: Sie, A.S., Prins, J.B., van Zelst‐Stams, W.A.G., Veltman, J.A., Feenstra, I., Hoogerbrugge, N.

المساهمون: Radboud university medical center

المصدر: Clinical Genetics ; volume 87, issue 4, page 319-326 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.12433
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12433
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12433

المؤلفون: van der Klift, H.M., Tops, C.M.J., Bik, E.C., Boogaard, M.W., Borgstein, A.M., Hansson, K.B.M., Ausems, M.G.E.M., Garcia, E.G., Green, A., Hes, F.J., Izatt, L., van Hest, L.P., Alonso, A.M., Vriends, A.H.J.T., Wagner, A., van Zelst-Stams, W.A.G., Vasen, H.F.A., Morreau, H., Devilee, P., Wijnen, J.T.

المصدر: van der Klift , H M , Tops , C M J , Bik , E C , Boogaard , M W , Borgstein , A M , Hansson , K B M , Ausems , M G E M , Garcia , E G , Green , A , Hes , F J , Izatt , L , van Hest , L P , Alonso , A M , Vriends , A H J T , Wagner , A , van Zelst-Stams , W A G , Vasen , H F A , Morreau , H , Devilee ....

الاتاحة: https://research.vumc.nl/en/publications/67309723-ff14-4e02-9a88-a8fa108c5681
https://doi.org/10.1002/humu.21229

المؤلفون: van Zelst‐Stams, W.A.G., van Steensel, M.A.M.

المصدر: American Journal of Medical Genetics Part A ; volume 149A, issue 7, page 1558-1560 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.32881
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.32881
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.32881

المؤلفون: Sie, A.S., Prins, J.B., van Zelst ‐ Stams, W.A.G., Veltman, J.A., Feenstra, I., Hoogerbrugge, N.

المصدر: Clinical Genetics; Apr2015, Vol. 87 Issue 4, p319-326, 8p, 1 Diagram, 3 Charts, 1 Graph

مصطلحات موضوعية: DIAGNOSIS, GENETIC mutation, NUCLEOTIDE sequence, PSYCHOLOGICAL distress, HEREDITY