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Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort
Haverkamp, M., Ossewaarde-van Norel, J., van Leeuwen, R., de Jong, P. A., Plomp, A. S., Visseren, F. L. J. & Spiering, W., Dec 2025, In: J. Invest. Dermatol.. 145, 12, p. 3217-3219.e6Research output: Contribution to journal › Article › Academic › peer-review
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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub, J.-M., Schaeffer-Reiss, C., Marcelis, C., Koolen, D. A., Pfundt, R., de Boer, E., Vissers, L. E., Gardeitchik, T., Aarts, L. A., Rinne, T., Terhal, P. A. & Verbeek, N. E. & 75 others, , 17 Nov 2025, In: Journal of Clinical Investigation. 135, 22Research output: Contribution to journal › Article › Academic › peer-review
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Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
Ghaleb, Y. E., Fernández-Quintero, M. L., Campiglio, M., Tuluc, P., Höing, A.-S., Kortüm, F., Motazacker, M. M., Jansen, I. E., Elting, M. W., Plomp, A. S., Fischer, A.-L. M., Siu, V. M., Kutsche, K. & Flucher, B. E., 18 Aug 2025, In: PLoS genetics. 21, 8 August, e1011828.Research output: Contribution to journal › Article › Academic › peer-review
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