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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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A Novel de Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease with Congenital Tremor, Seizures, and Hypotonia
Dannenberg, F., von Moers, A., Bittigau, P., Lange, J. R., Wiegand, S., Török, F., Stölting, G., Striessnig, J. R., Motazacker, M. M., Broekema, M. F., Schuelke, M., Kaindl, A. M., Scholl, U. I. & Ortner, N. J., 6 Sept 2024, In: Neurology: Genetics. 10, 5, 10.1212/NXG.0000000000200186.Research output: Contribution to journal › Article* › Academic › peer-review
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Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families
Schreurs, M. A. C., Hollestelle, A., Schaapveld, M., van de Beek, I., Broekema, M. F., van Kaam, K. J. A. F., Komdeur, F. L. & The Hereditary Breast and Ovarian Cancer Research Group Netherlands, 1 Sept 2024, In: Genetics in Medicine. 26, 9, 101171.Research output: Contribution to journal › Article* › Academic › peer-review
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