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Projects
- 1 Active
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Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations
Ensink, J. B. M., Krzyzewska, I. M., Li Yim, A. Y. F., Mannens, M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R. H., Lombardi, P. P. R., Mook, O. R. F., Motazacker, M. M. & Redeker, B. J. W.
1/02/2007 → …
Project: Research
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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Alders, M., Hogan, B. M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E. A., Holmberg, E. E., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Prescott, T. E., Schroor, E. J., Verheij, J. B. G. M., Witte, M., Zwijnenburg, P. J., Vikkula, M., 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
218 Citations (Scopus) -
Mutations in ZBTB20 cause Primrose syndrome
Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., Carvalho, D. R., Espay, A. J., Male, A., Molin, A-M., Posmyk, R., Battisti, C., Casertano, A., Melis, D., & 7 others, 2014, In: Nature Genetics. 46, 8, p. 815-817Research output: Contribution to journal › Article › Academic › peer-review
63 Citations (Scopus) -
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., Lombardi, M. P., 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
110 Citations (Scopus) -
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features
Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M. & Wilde, A. A. M., 2007, In: Circulation. 116, 14, p. 1569-1576Research output: Contribution to journal › Article › Academic › peer-review
182 Citations (Scopus) -
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
167 Citations (Scopus)
Press/Media
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Epigenetica laat ons trauma’s door kindermishandeling beter begrijpen
1/12/2021
1 item of Media coverage
Press/Media: Press / Media