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A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease
Smits, B. M., Lelieveld, P. H. C., Ververs, F. A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H. L., Boelens, J. J., Lindemans, C. A., Bloem, A. C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M. E., Geerke, D. P., Waterham, H. R., Koenderman, L. & Boes, M., Mar 2020, In: Clinical Immunology. 212, p. 1-3 3 p., 108248.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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Glutaminase deficiency caused by short tandem repeat expansion in GLS
van Kuilenburg, A. B. P., Tarailo-Graovac, M., Richmond, P. A., Drögemöller, B. I., Pouladi, M. A., Leen, R., Brand-Arzamendi, K., Dobritzsch, D., Dolzhenko, E., Eberle, M. A., Hayward, B., Jones, M. J., Karbassi, F., Kobor, M. S., Koster, J., Kumari, D., Li, M., MacIsaac, J., McDonald, C., Meijer, J., & 25 others , 11 Apr 2019, In: New England journal of medicine. 380, 15, p. 1433-1441 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder
Chinopoulos, C., Batzios, S., van den Heuvel, L. P., Rodenburg, R., Smeets, R., Waterham, H. R., Turkenburg, M., Ruiter, J. P., Wanders, R. J. A., Doczi, J., Horvath, G., Dobolyi, A., Vargiami, E., Wevers, R. A. & Zafeiriou, D., 2019, In: Molecular Genetics and Metabolism. 126, 1, p. 43-52Research output: Contribution to journal › Article › Academic › peer-review
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