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
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Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype
Claus, L. R., Snoek, R., Faber, S., Roskothen-Shevchuk, A. J. C., Sendino Garví, E., Peters, E. D. J., Savelberg, S. M. C., Duran, K., van der Zwaag, B., Nguyen, T. Q., Broekhuizen, R., Brummelhuis, W. J., Rookmaaker, M., van der Veen, S. W., Elferink, M. G., Karras, A., Raymond, L., Mousseaux, C., Sadeghi-Alavijeh, O. & Sayer, J. A. & 15 others, , Apr 2026, In: Nephron. 150, 4, p. 210-227 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome
van Oirsouw, A. S. E., Hsieh, T.-C., Koetsier, M., Alali, A., Albuainain, F., Bacchelli, E., Barakat, T. S., Capri, Y., Chantot-Bastaraud, S., Capra, V., Carere, D. A., Clement, E., Elkhateeb, N., Franchi, M., Li, J.-M., Matthews, N., McNiven, V., Mehta, S. G., Nakamura, M. & Phornphutkul, C. & 11 others, , Aug 2026, In: Clinical Genetics. 110, 2, p. 150-164 15 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
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 AccessFile27 Downloads (Pure)