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DA Klinische Genetica

  • Raad van Bestuur cluster 2
  • Diagnostiek en Advies
  • Overview
  • Network
  • Researchers (62)
  • Publications (858)

Profiles

  • No photo of Sietse Aukema

    Sietse Aukema

    • DA KG AIOS - PhD MUMC+

    Person: Paid Staff - azM-employee

    20222023
  • No photo of Marinus Blok

    Marinus Blok

    • DA KG Lab Specialisten - Clinical physicist/chemist
    • GROW - Reproductive and Perinatal Medicine

    Person: Paid Staff - Academic Staff, Paid Staff - azM-employee

    19982023
  • No photo of Eveline Blom

    Eveline Blom

    • DA KG Polikliniek - PhD MUMC+

    Person: Paid Staff - azM-employee

    20102018
View all 62 researchers

Research output

  • 744 Article
  • 29 Doctoral Thesis
  • 24 Comment/Letter to the editor
  • 21 Review article
  • More
    • 19 Editorial
    • 13 Erratum / corrigendum / retractions
    • 2 Inaugural speech
    • 2 Chapter
    • 2 Abstract
    • 1 Book
    • 1 Conference Abstract/Poster in journal

Research output per year

Research output per year

  • A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

    Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H., Sheppard, S. E., & 29 othersKeena, B., Hakonarson, H., Roos, A., Kohlschmidt, N., Cereda, A., Iascone, M., Rebessi, E., Kernohan, K. D., Campeau, P. M., Millan, F., Taylor, J. A., Lochmüller, H., Higgs, M. R., Goula, A., Bernhard, B., Velasco, D. J., Schmanski, A. A., Stark, Z., Gallacher, L., Pais, L., Marcogliese, P. C., Yamamoto, S., Raun, N., Jakub, T. E., Kramer, J. M., den Hoed, J., Fisher, S. E., Brunner, H. G. & Kleefstra, T., 12 Jan 2023, In: HGG advances. 4, 1, 9 p., 100157.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    1 Citation (Web of Science)
  • A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium

    Lannoo, L., van der Meij, K. R. M., Bekker, M. N., De Catte, L., Deckers, S., Devriendt, K., Roggen, N., Robert-Jan, H. G., van der Wal, J., Macville, M. V. E., Martin, L., Sistermans, E. A., Van Calsteren, K., Van Keirsbilck, J., Crombag, N. & Henneman, L., Mar 2023, In: Prenatal Diagnosis. 43, 3, p. 294-303 10 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    1 Citation (Web of Science)
  • Alitretinoin as a treatment modality for ichthyosis in women of childbearing age - a case series and review of the literature

    Clabbers, J., van Oosten, N., Bolling, M., Vreeburg, M., van Geel, M., Steijlen, P. & Gostynski, A., 1 Sept 2023, In: Dermatology. 13 p.

    Research output: Contribution to journal › (Systematic) Review article › peer-review

View all 858 research outputs

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