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Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
Bresack, B., Kohl, L. R., Afenjar, A., Audic, F., Burglen, L., Charles, P., Dundar, N. O., van de Kamp, J., Machol, K., Magoulas, P., Goze-Martineau, O., Motazacker, M., Philippi, H., Reyes, A., Tutakhel, O. A. Z., Bertoli-Avella, A., Sticht, H., Abou Jamra, R. & Oppermann, H., 4 Dec 2025, In: American journal of human genetics. 112, 12, p. 2961-2972Research output: Contribution to journal › Article › Academic › peer-review
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AUTS2-related syndrome: Insights from a large European cohort
Loberti, L., Adamo, L., Antolini, E., Casamassima, G., Destrèe, A., Brunetti-Pierri, N., Genevieve, D., Christophe, P., Coubes, C., van Esch, H., Herget, T., Kortüm, F., Lisfeld, J., Möllring, A. C., Zenker, M., Levy, J., Perrin, L., Tabet, A.-C., Maruani, A. & Sorlin, A. & 55 others, , 1 Jun 2025, In: Genetics in Medicine. 27, 6, 101375.Research output: Contribution to journal › Article › Academic › peer-review
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Sulfate: a neglected (but potentially highly relevant) anion
den Bakker, E., Smith, D. E. C., Finken, M. J. J., Wamelink, M. M. C., Salomons, G. S., van de Kamp, J. M. & Bökenkamp, A., 4 Dec 2024, In: Essays in Biochemistry. 68, 4, p. 391-399 9 p.Research output: Contribution to journal › Review article › Academic › peer-review
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