Floor Duijkers

Research output

Research output per year 2016 2019 2021 2023 2024

• 19 Article
• 1 Meeting Abstract
• 1 Comment/Letter to the editor

Research output per year

Research output per year

Search results

• 2019

  De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

  Lehalle, D., Vabres, P., Bierhals, T., Cho, M. T., Cogne, B., Avila, M., Carmignac, V., Duplomb-Jego, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal-Valevski, A., Genevieve, D., Guimier, A., Harris, D., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., & 14 othersLichtenbelt, K., Ramey, V. L., Pasquier, L., St-Onge, J., Sorlin, A., Thevenon, J., Torti, E., Van Gassen, K., Van Haelst, M., van Koningsbruggen, S., Riviere, J., Thauvin, C., Betschinger, J. & Faivre, L., Oct 2019, In: European journal of human genetics. 27, p. 1094-1094

  Research output: Contribution to journal › Meeting Abstract › Academic