dr. ir. H.H. Lemmink

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E-mail:
h.h.lemmink umcg.nl

Research

Publications
  1. Genotype-phenotype correlation at codon 1740 ofSETD2

    Rabin, R., Radmanesh, A., Glass, I. A., Dobyns, W. B., Aldinger, K. A., Shieh, J. T., Romoser, S., Bombei, H., Dowsett, L., Trapane, P., Bernat, J. A., Baker, J., Mendelsohn, N. J., Popp, B., Siekmeyer, M., Sorge, I., Sansbury, F. H., Watts, P., Foulds, N. C., Burton, J., Hoganson, G., Hurst, J. A., Menzies, L., Osio, D., Kerecuk, L., Cobben, J. M., Jizi, K., Jacquemont, S., Belanger, S. A., Lohner, K., Veenstra-Knol, H. E., Lemmink, H. H., Keller-Ramey, J., Wentzensen, I. M., Punj, S., McWalter, K., Lenberg, J., Ellsworth, K. A., Radtke, K., Akbarian, S. & Pappas, J., Sep-2020, In : American Journal of Medical Genetics. Part A. 182, 9, p. 2037-2048 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

    Wadman, R. I., Jansen, M. D., Curial, C. A. D., Groen, E. J. N., Stam, M., Wijngaarde, C. A., Medic, J., Sodaar, P., van Eijk, K. R., Huibers, M. M. H., van Kuik, J., Lemmink, H. H., van Rheenen, W., Veldink, J. H., van den Berg, L. H. & van der Pol, W. L., Feb-2020, In : Neurology. Genetics. 6, 1, 8 p., 386.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Hyperkeratotic hand eczema: Eczema or not?

    Politiek, K., Loman, L., Pas, H. H., Diercks, G. F. H., Lemmink, H. H., Jan, S. Z., van den Akker, P. C., Bolling, M. C. & Schuttelaar, M. L. A., 25-Apr-2020, In : CONTACT DERMATITIS. 83, 3, p. 196-205 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

    Strunk, A., Abbes, A., Stuitje, A. R., Hettinga, C., Sepers, E. M., Snetselaar, R., Schouten, J., Asselman, F-L., Cuppen, I., Lemmink, H., van der Pol, W. L. & Engel, H., Jun-2019, In : International journal of neonatal screening. 5, 2, 9 p., 21.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 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

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ID: 363797