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Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing
van de Burgt, N., van Koningsbruggen, S., Behrens, L., Leibold, N., Martinez-Martinez, P., Mannens, M. & van Amelsvoort, T., 1 Jun 2021, In: Journal of Psychiatric Research. 138, p. 125-129 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey
ten Dam, L., de Visser, M., Ginjaar, I. B., van Duyvenvoorde, H. A., van Koningsbruggen, S. & van der Kooi, A. J., 2021, In: Journal of neuromuscular diseases. 8, 2, p. 261-272 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)
Verhoeven, D., Schonenberg-Meinema, D., Ebstein, F., Papendorf, J. J., Baars, P. A., van Leeuwen, E. M. M., Jansen, M. H., Lankester, A. C., van der Burg, M., Florquin, S., Maas, S. M., van Koningsbruggen, S., Krüger, E., van den Berg, J. M. & Kuijpers, T. W., 2021, (E-pub ahead of print) In: Journal of allergy and clinical immunology.Research output: Contribution to journal › Article › Academic › peer-review
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