PI
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Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy
Schuurmans, I. M. E., Engelke, U., Abedrabbo, M., Puvogel, S., Mijdam, R., Scholten, G.-J., van Katwijk, S. B., Oudakker, A., Al-Shekaili, H. H., Lefeber, D. J., Leavitt, B. R., van Karnebeek, C. D. M., Nadif Kasri, N. & Garanto, A., 9 Dec 2025, In: Molecular Therapy Nucleic Acids. 36, 4, 102728.Research output: Contribution to journal › Article › Academic › peer-review
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A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD
Lu, H. Y., Vaseghi-Shanjani, M., Lam, A. J., Sharma, M., Mohajeri, A., Silva, L. B. R., Gillies, J., Yang, G. X., Lin, S., Fu, M. P., Salman, A., Rahmanian, R., Armstrong, L., Halparin, J., Yang, C. L., Chilvers, M., Henkelman, E., Rehmus, W., Morrison, D. & Setiadi, A. & 7 others, , 1 Dec 2025, In: Journal of clinical immunology. 45, 1, 89.Research output: Contribution to journal › Article › Academic › peer-review
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Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs
Müller, A. R., den Hollander, B., van Eeghen, A. M., van de Ven, P. M., Cornel, M., van Haelst, M., Sprengers, J. J., Bruining, H., Brands, M. M. & van Karnebeek, C. D., 1 Dec 2025, In: Genetics in Medicine. 27, 12, 101592.Research output: Contribution to journal › Article › Academic › peer-review
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