prof. dr. R.J. (Richard) Sinke

Professor

prof. dr. R.J. (Richard) Sinke
Telephone:
E-mail:
r.j.sinke umcg.nl

Research

Publications
  1. Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

    Bremer, J., van der Heijden, E. H., Eichhorn, D. S., Meijer, R., Lemmink, H. H., Scheffer, H., Sinke, R. J., Jonkman, M. F., Pasmooij, A. M. G. & Van den Akker, P. C., 18-Dec-2019, In : Molecular therapy - Nucleic acids. 18, p. 465-475 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Allele specific expression identifies rare variants as cause for extreme allelic imbalance

    BIOS Consortium, Jul-2019, In : European Journal of Human Genetics. 27, p. 601 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  3. NGS expanded carrier screening in the Netherlands: initial implementation results

    Abbott, K. M., Dijkhuizen, T., Veldhuis, M., Schuurmans, J., van Langen, I. & Sinke, R. J., Jul-2019, In : European Journal of Human Genetics. 27, p. 13-13 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  4. Genetics, lifestyle and cholesterol in young women

    Rimbert, A., Balder, J., Zhang, X., Viel, M., Kanninga, R., van Dijk, F., Lansberg, P., Sinke, R. J. & Kuivenhoven, J., Jul-2019, In : European Journal of Human Genetics. 27, p. 148-148 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  5. Natural exon skipping reveals that antisense oligonucleotide-mediated exon skipping should be directed at the recessive type of dystrophic epidermolysis bullosa

    Bremer, J., van der Heijden, E. H., Eichhorn, D. S., Meijer, R., Lemmink, H. H., Scheffer, H., Sinke, R. S., Jonkman, M. F., Pasmooij, A. M. G. & Van den Akker, P. C., Oct-2019, In : European Journal of Human Genetics. 27, p. 1280-1281 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

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Activities
  1. FUSS is niet nodig als je de VUS er uit haalt.

    Richard Sinke (Invited speaker)
    17-Apr-2018

    Activity: Talk or presentationProfessional

View all (1) »

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