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DA KG Polikliniek

  • DA Klinische Genetica
  • DA KG Polikliniek
  • Overview
  • Network
  • Researchers (19)
  • Publications (485)

Profiles

  • No photo of Eveline Blom

    Eveline Blom

    • DA KG Polikliniek - PhD MUMC+

    Person: Paid Staff - azM-employee

    20102018
  • No photo of Margo Eijck - Vievermans

    Margo Eijck - Vievermans

    • DA KG Polikliniek - Case manager

    Person: Paid Staff - azM-employee

  • No photo of Encarna B. Gomez Garcia

    Encarna B. Gomez Garcia

    • Faculty of Health, Medicine and Life Sciences, Genetica & Celbiologie - Associate Professor
    • DA KG Polikliniek - UMS
    • GROW - Reproductive and Perinatal Medicine

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

    20032023
View all 19 researchers

Research output

  • 421 Article
  • 18 Doctoral Thesis
  • 14 Comment/Letter to the editor
  • 13 Review article
  • More
    • 8 Editorial
    • 6 Erratum / corrigendum / retractions
    • 2 Abstract
    • 1 Inaugural speech
    • 1 Chapter
    • 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)
  • 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

  • All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

    Faas, B. H. W., Westra, D., de Munnik, S. A., van Rij, M., Marcelis, C., Joosten, S., Krapels, I., Vernimmen, V., Heijligers, M., Willemsen, M. H., de Leeuw, N., Rinne, T., Pfundt, R., Smeekens, S. P., Stegmann, S. P. A., Macville, M., Sikkel, E., Coumans, A., Wijnberger, L., Derks, I., & 6 othersvan Lent-Albrechts, J., Hofste, T., Timmermans, R., van den End, J., Stevens, S. J. C. & Feenstra, I., Apr 2023, In: Prenatal Diagnosis. 43, p. 527-543 17 p.

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

    Open Access
View all 485 research outputs

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