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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E., Hou, C., & 133 others , 20 Jan 2024, In: Journal of clinical investigation. 134, 1, e171235.Research output: Contribution to journal › Article › Academic › peer-review
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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
Vos, N., Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., 2024, (E-pub ahead of print) In: European journal of human genetics.Research output: Contribution to journal › Article › Academic › peer-review
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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity
Kleinendorst, L., Abawi, O., Vos, N., van der Valk, E. S., Maas, S. M., Morgan, A. T., Hildebrand, M. S., da Silva, J. D., Florijn, R. J., Lauffer, P., Visser, J. A., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., 2024, (E-pub ahead of print) In: Clinical obesity.Research output: Contribution to journal › Article › Academic › peer-review
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