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Exploring the variability in spoken language comprehension, speech and functional communication in children with GNAO1-related disorder: a case series
Heideman, L. R., Geytenbeek, J., Wolf, N. I., Buizer, A. I. & van de Pol, L. A., May 2026, In: European Journal of Paediatric Neurology. 62, p. 46-50 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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Consensus-based follow-up and treatment registry for GNAO1-associated disorder
Heideman, L. R., Wolf, N. I., Thiel, M., Schieving, J. H., De Kruiff, C., van den Bos, S., Van Heeringen-Broekhuizen, E., Deuring, J. J., Buizer, A. I. & Van De Pol, L. A., 2026, (Accepted/In press) In: Developmental medicine and child neurology.Research output: Contribution to journal › Article › Academic › peer-review
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A clinical and genotype-phenotype analysis of MACF1 variants
Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A.-S., Mosca-Boidron, A.-L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, , 2 Oct 2025, In: American journal of human genetics. 112, 10, p. 2363-2380 18 p.Research output: Contribution to journal › Article › Academic › peer-review
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