Further delineation of the partial proximal trisomy 10q syndrome.

di Aalfs, C M, Hoovers, J M, Nieste-Otter, M A, Mannens, M M, Hennekam, R C, Leschot, N J
Pubblicazione 1995

Genotype‐phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

di Bhuiyan, Z A, Klein, M, Hammond, P, van Haeringen, A, Mannens, M M A M, Van Berckelaer‐Onnes, I, Hennekam, R C M
Pubblicazione 2006

A monozygotic twin pair with highly discordant Gaucher phenotypes

di Biegstraaten, M., van Schaik, I.N., Aerts, J.M.F.G., Langeveld, M., Mannens, M.M.A.M., Bour, L.J., Sidransky, E., Tayebi, N., Fitzgibbon, E., Hollak, C.E.M.
Pubblicazione 2010

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

di Krzyzewska, I. M., Alders, M., Maas, S. M., Bliek, J., Venema, A., Henneman, P., Rezwan, F. I., Lip, K. v. d., Mul, A. N., Mackay, D. J. G., Mannens, M. M. A. M.
Pubblicato in Clin Epigenetics (2019)

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

di Christiaans, I., Nannenberg, E.A., Dooijes, D., Jongbloed, R.J.E., Michels, M., Postema, P.G., Majoor-Krakauer, D., van den Wijngaard, A., Mannens, M.M.A.M., van Tintelen, J.P., van Langen, I.M., Wilde, A.A.M.
Pubblicazione 2010

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

di van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.
Pubblicazione 2011

A genome-wide DNA methylation signature for SETD1B-related syndrome

di Krzyzewska, I. M., Maas, S. M., Henneman, P., Lip, K. v. d., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ikeda, H., Jacquemont, M., Kim, H.-G., Labalme, A., Lewis, S. M. E., Lesca, G., Madrigal, I., Mahida, S., Matsumoto, N., Rabionet, R., Rajcan-Separovic, E., Qiao, Y., Sadikovic, B., Saitsu, H., Sweetser, D. A., Alders, M., Mannens, M. M. A. M.
Pubblicato in Clin Epigenetics (2019)