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Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports
Ferreira, E. A., Hofstede, F. C., Haijes-Siepel, H. A., Lichtenbelt, K. D., Pistorius, L., de Sain-van der Velden, M. G. M., Nikkels, P. G. J., Lequin, M. H., de Vries, L. S., van der Crabben, S. N. & van Hasselt, P. M., 1 Jan 2024, In: Genetics in medicine open. 2, 101853.Research output: Contribution to journal › Article* › Academic › peer-review
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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
Undiagnosed Diseases Network, 6 Apr 2023, In: American journal of human genetics. 110, 4, p. 663-680 18 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Ferreira, E. A., Veenvliet, A. R. J., Engelke, U. F. H., Kluijtmans, L. A. J., Huigen, M. C. D. G., Hoegen, B., de Boer, L., de Vries, M. C., van Bon, B. W., Leenders, E., Cornelissen, E. A. M., Haaxma, C. A., Schieving, J. H., Rubio-Gozalbo, M. E., Körver-Keularts, I. M. L. W., Marten, L. M., Diegmann, S., Mourmans, J., Rennings, A. J. M. & van Karnebeek, C. D. M. & 2 others, , Jan 2023, In: Genetics in Medicine. 25, 1, p. 125-134 10 p.Research output: Contribution to journal › Article* › Academic › peer-review
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