CLIN Journal, 0021-9738

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  1. BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome

    Sieben, C. J., Jeganathan, K. B., Nelson, G. G., Sturmlechner, I., Zhang, C., van Deursen, W. H., Bakker, B., Foijer, F., Li, H., Baker, D. J. & van Deursen, J. M., 18-Nov-2019, In : The Journal of Clinical Investigation.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

    Groenestege, W. M. T., Thébault, S., van der Wijst, J., van den Berg, D., Janssen, R., Tejpar, S., van den Heuvel, L. P., van Cutsem, E., Hoenderop, J. G., Knoers, N. V. & Bindels, R. J., Aug-2007, In : The Journal of Clinical Investigation. 117, 8, p. 2260-2267 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

    Glaudemans, B., van der Wijst, J., Scola, R. H., Lorenzoni, P. J., Heister, A., van der Kemp, A. W., Knoers, N. V., Hoenderop, J. G. & Bindels, R. J., Apr-2009, In : The Journal of Clinical Investigation. 119, 4, p. 936-942 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

    Roberts, J. D., Murphy, N. P., Hamilton, R. M., Lubbers, E. R., James, C. A., Kline, C. F., Gollob, M. H., Krahn, A. D., Sturm, A. C., Musa, H., El-Refaey, M., Koenig, S., Aneq, M. Å., Hoorntje, E. T., Graw, S. L., Davies, R. W., Rafiq, M. A., Koopmann, T. T., Aafaqi, S., Fatah, M., Chiasson, D. A., Taylor, M. R., Simmons, S. L., Han, M., van Opbergen, C. J., Wold, L. E., Sinagra, G., Mittal, K., Tichnell, C., Murray, B., Codima, A., Nazer, B., Nguyen, D. T., Marcus, F. I., Sobriera, N., Lodder, E. M., van den Berg, M. P., Spears, D. A., Robinson, J. F., Ursell, P. C., Green, A. K., Skanes, A. C., Tang, A. S., Gardner, M. J., Hegele, R. A., van Veen, T. A., Wilde, A. A. M., Healey, J. S., Janssen, P. M. L., Mestroni, L., van Tintelen, J. P., Calkins, H., Judge, D. P., Hund, T. J., Scheinman, M. M. & Mohler, P. J., 1-Aug-2019, In : The Journal of Clinical Investigation. 129, 8, p. 3171-3184 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Hepatic insulin signaling regulates VLDL secretion and atherogenesis in mice

    Han, S., Liang, C-P., Westerterp, M., Senokuchi, T., Welch, C. L., Wang, Q., Matsumoto, M., Accili, D. & Tall, A. R., Apr-2009, In : The Journal of Clinical Investigation. 119, 4, p. 1029-1041 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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