-
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
-
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
-
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., de Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A. & Geneviève, D. & 31 others, , 1 Dec 2020, In: Journal of medical genetics. 57, 12, p. 808-819 12 p., 106508.Research output: Contribution to journal › Article* › Academic › peer-review
- All publications
