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Early mortality in STXBP1-related disorders
European STXBP1 consortium (ESCO), 11 Oct 2024, (E-pub ahead of print) In: Neurological Sciences.Research output: Contribution to journal › Article* › Academic › peer-review
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DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan, L., Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M. A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A. K., Li, D., Vissers, L. E. L. M., Dingemans, A. J. M., Valenzuela, I., Verberne, E. A., Misra-Isrie, M. & Zwijnenburg, P. J. G. & 8 others, , 1 Mar 2024, In: Genetics in Medicine. 26, 3, p. 101050 101050.Research output: Contribution to journal › Article* › Academic › peer-review
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Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons
van Berkel, A. A., Lammertse, H. C. A., Öttl, M., Koopmans, F., Misra-Isrie, M., Meijer, M., Dilena, R., van Hasselt, P. M., Engelen, M., van Haelst, M., Smit, A. B., van der Sluis, S., Toonen, R. F. & Verhage, M., Jan 2024, In: Biological psychiatry global open science. 4, 1, p. 284-298 15 p.Research output: Contribution to journal › Article* › Academic › peer-review
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