Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency)
Ciapaite, J., Albersen, M., Savelberg, S. M. C., Bosma, M., Meijer, N. W. F., Tessadori, F., Bakkers, J. P. W., van Haaften, G., Jans, J. J. & Verhoeven-Duif, N. M., Apr 2025, In: International Journal of Molecular Sciences. 26, 7, 23 p., 3270.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
Increased mTOR signaling secondary to a human ILK missense variant inhibits nephrogenesis with decreased metabolism
Hu, X., Kablawi, D., Feitz, W. F. J., Renkema, K. Y., Knoers, N. V. A. M. & Rosenblum, N. D., Dec 2025, In: Mechanisms of Ageing and Development. 228, 112115.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
van Oirsouw, A. S. E., Hadders, M. A., Koetsier, M., Peters, E. D. J., Assia Batzir, N., Barakat, T. S., Baralle, D., Beil, A., Bonnet-Dupeyron, M.-N., Boone, P. M., Bouman, A., Carere, D. A., Cogne, B., Dunnington, L., Farach, L. S., Genetti, C. A., Isidor, B., Januel, L., Joshi, A. & Lahiri, N. & 11 others, , 15 Aug 2025, In: Human molecular genetics. 34, 16, p. 1353–1367 15 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure)