-
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Alders, M., Gjini, E., Salehi, F., Al-Gazali, L., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Witte, M., Zwijnenburg, P. J., Schulte-Merker, S. & Hennekam, R. C., 2009, In: Nature Genetics. 41, 12, p. 1272-1274 3 p.Research output: Contribution to journal › Article › Academic › peer-review
-
Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience
Hofman, N., Tan, H. L., Alders, M., Kolder, I., de Haij, S., Mannens, M. M. A. M., Lekanne Deprez, R. H., van Langen, I. & Wilde, A. A. M., 2013, In: Circulation. 128, 14, p. 1513-1521Research output: Contribution to journal › Article › Academic › peer-review
-
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
Bliek, J., Terhal, P., van den Bogaard, M.-J., Maas, S., Hamel, B., Salieb-Beugelaar, G., Simon, M., Letteboer, T., van der Smagt, J., Kroes, H. & Mannens, M., 2006, In: American journal of human genetics. 78, 4, p. 604-614Research output: Contribution to journal › Article › Academic › peer-review
- All publications
-
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
Kleinendorst, 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
-
The utility of obesity polygenic risk scores from research to clinical practice: A review
Jansen, P. R., van Uhm, J., Dekkers, I. A., van der Meer, R., Mannens, M. M. A. M. & van Haelst, M. M., Nov 2024, In: Obesity Reviews. 25, 11, p. 1-14 14 p., e13810.Research output: Contribution to journal › Review article › Academic › peer-review
-
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
Rooney, K., Haghshenas, S., Relator, R., Levy, M. A., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Zweier, C., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M. & van Haelst, M. M. & 7 others, , 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 10 p., 100289.Research output: Contribution to journal › Article › Academic › peer-review
- All publications