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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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
Zwartkruis, M. M., de Pagter, M. S., Gommers, D., Koopmans, M., Ottenheim, C. P. E., Kortooms, J. V., Albring, M., Elferink, M. G., Wadman, R. I., Asselman, F.-L., Cuppen, I., van der Pol, W. L., Nelen, M. R., van Haaften, G. W. & Groen, E. J. N., 15 May 2025, In: Human molecular genetics. 34, 10, p. 894–904 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile20 Downloads (Pure) -
Challenging Conventional Diagnostic Methods by Comprehensive Molecular Diagnostics: A Nationwide Prospective Comparison in Children With ALL
Boer, J. M., Koudijs, M. J., Kester, L. A., Sonneveld, E., Hehir-Kwa, J. Y., Snijder, S., Waanders, E., Buijs, A., De Haas, V., Van Der Sluis, I. M., Pieters, R., Den Boer, M. L. & Tops, B. B. J., 1 Feb 2025, In: JCO Precision Oncology. 9, e2400788.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype
van Ommeren, B., Hoekstra, M., van Gassen, K., van Jaarsveld, R., van Haaften, G., Mathijssen, I., Dammers, R., van Veelen, M. L., Baars, R. & Giltay, J., Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63870.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure)