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Epidemiological and clinical data from the European Lipodystrophy Registry
Ceccarini, G., Vatier, C., Akinci, B., Belalem, I., Broekema, M., Csajbok, E., Rosaria D'Apice, M., Gambineri, A., Heldt, K., Heni, M., Kleinendorst, L., Krause, K., Lattanzi, G., Miehle, K., Palladino, L., Prodam, F., Santini, F., Santos Silva, E., Savage, D. B. & Sbraccia, P. & 26 others, , 1 Nov 2025, In: Eur. J. Endocrinol.. 193, 5, p. 685-703 19 p.Research 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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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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