Amsterdam Reproduction & Development

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

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., Nov 2024, In: European journal of human genetics. 32, 11, p. 1387-1401 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review

van der Laan, L., Kleinendorst, L., van Hagen, J. M., Waisfisz, Q. & van Haelst, M. M., 1 Oct 2024, In: European journal of medical genetics. 71, 104964.

Research output: Contribution to journal › Article › Academic › peer-review

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity

Kleinendorst, L., Abawi, O., 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., Aug 2024, In: Clinical obesity. 14, 4, e12661.

Research output: Contribution to journal › Article › Academic › peer-review