DA KG Lab Specialisten

Research output

Research output per year 2015 2023 2024

• 66 Article
• 5 Comment/Letter to the editor
• 4 (Systematic) Review article
• 3 Preprint
• 4 More
  • 2 Erratum / corrigendum / retractions
  • 2 Doctoral Thesis

Research output per year

Research output per year

Search results

• 2023

  Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome

  Savige, J., Storey, H., Watson, E., Hertz, J. M., Deltas, C., Renieri, A., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., & 23 othersKoziell, A., Lungu, A., Rothe, H. M., Hoefele, J., Zacchia, M., Martic, T. N., Gupta, A., van Eerde, A., Gear, S., Landini, S., Palazzo, V., al-Rabadi, L., Claes, K., Corveleyn, A., Van Hoof, E., van Geel, M., Williams, M., Ashton, E., Belge, H., Ars, E., Bierzynska, A., Gangemi, C. & Lipska-Zietkiewicz, B. S., 1 Jan 2023, In: European Journal of Human Genetics. 32, 1, p. 132-132 1 p.

  Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

  Open Access

• Correction Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

  de Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A-S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H. Z., Faivre, L., Fitzgerald-Butt, S., Geneviève, D., & 30 othersGoos, J. A. C., Helm, B. M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S. A., Mathijssen, I. M. J., McGowan, R., Monaghan, K. G., Odent, S., Pfundt, R., Putoux, A., van Reeuwijk, J., Santen, G. W. E., Sasaki, E., Sorlin, A., van der Spek, P. J., Stegmann, A. P. A., Swagemakers, S. M. A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S. M., Wéber, M., Gilissen, C., Low, K. J., Fisher, S. E., Vissers, L. E. L. M., Wong, M. M. K. & Kleefstra, T., Nov 2023, In: Genetics in Medicine. 25, 11, 3 p., 100962.

  Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

  Open Access