Saskia van der Crabben

DR.

20162019
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Research Output 2016 2019

Identification of human D lactate dehydrogenase deficiency

Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F. & 8 othersBosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 2019, In : Nature Communications. 10, 1, 1477.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 6 Jun 2018, In : Genetics in Medicine. p. 1-12

Research output: Contribution to journalArticleAcademicpeer-review

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Van Der Crabben, S. N., Hennus, M. P., McGregor, G. A., Ritter, D. I., Nagamani, S. C. S., Wells, O. S., Harakalova, M., Chinn, I. K., Alt, A., Vondrova, L., Hochstenbach, R., Van Montfrans, J. M., Terheggen-Lagro, S. W., Van Lieshout, S., Van Roosmalen, M. J., Renkens, I., Duran, K., Nijman, I. J., Kloosterman, W. P., Hennekam, E. & 10 othersOrange, J. S., Van Hasselt, P. M., Wheeler, D. A., Palecek, J. J., Lehmann, A. R., Oliver, A. W., Pearl, L. H., Plon, S. E., Murray, J. M. & Van Haaften, G., 1 Aug 2016, In : Journal of Clinical Investigation. 126, 8, p. 2881-2892 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access