يعرض 1 - 20 نتائج من 79 نتيجة بحث عن '"van der Schoot,Vyne"', وقت الاستعلام: 0.69s تنقيح النتائج
  1. 1
    Academic Journal

    المصدر: van der Schoot , V , van der Meer , E , Hillen , M A , Yntema , H G , Brunner , H G & Oerlemans , A J M 2024 , ' Exploring uncertainties regarding unsolicited findings in genetic testing ' , Patient Education and Counseling , vol. 119 , 108064 . https://doi.org/10.1016/j.pec.2023.108064

    وصف الملف: application/pdf

  2. 2
  3. 3
    Academic Journal

    المصدر: Donze , S H , Srebniak , M I , Diderich , K E M , van den Born , M , Galjaard , R-J , Govaerts , L C P , van der Schoot , V , Knapen , M F C M , Joosten , M & Van Opstal , D 2024 , ' Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results ' , Prenatal Diagnosis , vol. 44 , no. 4 , pp. 401-408 . https://doi.org/10.1002/pd.6499

    وصف الملف: application/pdf

  4. 4
    Academic Journal
  5. 5
    Academic Journal

    المصدر: 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.S411185

  6. 6
    Academic Journal
  7. 7
  8. 8
    Report

    المصدر: Blackburn , P R , Ebstein , F , Hsieh , T-C , Motta , M , Radio , F C , Herkert , J C , Rinne , T , Thiffault , I , Rapp , M , Alders , M , Maas , S , Gerard , B , Smol , T , Vincent-Delorme , C , Cogné , B , Isidor , B , Vincent , M , Bachmann-Gagescu , R , Rauch , A , Joset , P , Ferrero , G B , Ciolfi , A , Husson , T , Guerrot , A-M ....

  9. 9
    Academic Journal

    المصدر: Haarman , A E G , Thiadens , A A H J , van Tienhoven , M , Loudon , S E , de Klein , J E M M A , Brosens , E , Polling , J R , van der Schoot , V , Bouman , A , Kievit , A J A , Hoefsloot , L H , Klaver , C C W & Verhoeven , V J M 2022 , ' Whole exome sequencing of known eye genes reveals genetic causes for high myopia ' , Human Molecular Genetics , vol. 31 , no. ....

    وصف الملف: application/pdf

  10. 10
    Academic Journal

    المصدر: Blackburn , P R , Ebstein , F , Hsieh , T-C , Motta , M , Radio , F C , Herkert , J C , Rinne , T , Thiffault , I , Rapp , M , Alders , M , Maas , S , Gerard , B , Smol , T , Vincent-Delorme , C , Cogne , B , Isidor , B , Vincent , M , Bachmann-Gagescu , R , Rauch , A , Joset , P , Ferrero , G B , Ciolfi , A , Husson , T , Guerrot , A-M ....

  11. 11
    Academic Journal
  12. 12
    Academic Journal
  13. 13

    المصدر: medRxiv

    مصطلحات موضوعية: Article

  14. 14
    Electronic Resource

    المصدر: 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 .

    مصطلحات الفهرس: article

  15. 15
  16. 16
    Academic Journal

    المصدر: Haer-Wigman , L , van der Schoot , V , Feenstra , I , Vulto-van Silfhout , A T , Gilissen , C , Brunner , H G , Vissers , L E L M & Yntema , H G 2019 , ' 1 in 38 individuals at risk of a dominant medically actionable disease ' , European Journal of Human Genetics , vol. 27 , no. 2 , pp. 325-330 . https://doi.org/10.1038/s41431-018-0284-2

  17. 17
    Academic Journal

    المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , van den Born , M , Wilke , M , Joosten , M , Stuurman , K E , Hoefsloot , L H , van Opstal , D , Brüggenwirth , H T & Srebniak , M I 2023 , ' The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis ' , European Journal of Medical Genetics , vol. 66 , no. 10 , 104844 . https://doi.org/10.1016/j.ejmg.2023.104844

  18. 18
    Conference

    المصدر: Klapwijk , J E , Polak , M G , Diderich , K E M , Srebniak , M I , Bruggenwirth , H T , Lou , S , Vogel , I , van der Schoot , V , Bakkeren , I M , Dijkstra , K & Riedijk , S 2022 , ' Reporting uncertain prenatal exome sequencing results : how do medical students handle uncertainty? ' , European Journal of Human Genetics , vol. 30 , no. Supplement 1 , P22.013.D , pp. 563 .

  19. 19
    Academic Journal

    المصدر: van der Schoot , V , de Munnik , S , Venselaar , H , Elting , M , Mancini , G M S , Ravenswaaij-Arts , C M A , Anderlid , B M , Brunner , H G & Stevens , S J C 2018 , ' Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene ' , Molecular Genetics and Genomic Medicine , vol. 6 , no. 3 , pp. 393-400 . https://doi.org/10.1002/mgg3.387

  20. 20
    Academic Journal

    المصدر: Heijligers , M , Van Montfoort , A , Meijer-Hoogeveen , M , Broekmans , F , Bouman , K , Homminga , I , Dreesen , J , Paulussen , A , Engelen , J , Coonen , E , Van der Schoot , V , van Deursen-Luijten , M , Muntjewerff , N , Peeters , A , van Golde , R , van der Hoeven , M , Arens , Y & de Die-Smulders , C 2018 , ' Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014 ' , Journal of ....