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Research Output 1989 2019

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping, L., Tessadori, F., Pouwels, P. J. W., Vringer, E., Wijnen, J. P., Bhogal, A. A., Savelberg, S. M. C., Duran, K. J., Bakkers, M. J. G., Ramos, R. B. J. J., Schellekens, P. A. W., Kroes, H. Y., Klomp, D. W. J., Black, G. C. M., Taylor, R. L., Bakkers, J. P. W., Prinsen, H. C. M. T., van der Knaap, M. S., Dansen, T. B., Rehmann, H. & 6 othersZwartkruis, F. J. T., Houwen, R. H. J., van Haaften, G., Verhoeven-Duif, N. M., Jans, J. J. M. & van Hasselt, P. M., 2019, In : Human Molecular Genetics. 28, 1, p. 96-104

Research output: Contribution to journalArticleAcademicpeer-review

Oculodentodigital dysplasia: A hypomyelinating leukodystrophy with a characteristic MRI pattern of brain stem involvement

Harting, I., Karch, S., Moog, U., Seitz, A., Pouwels, P. J. W. & Wolf, N. I., 2019, In : American Journal of Neuroradiology. 40, 5, p. 903-907

Research output: Contribution to journalArticleAcademicpeer-review