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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., de Marco, P., & 52 others , 1 Nov 2023, In: Genetics in medicine. 25, 11, 100950.Research output: Contribution to journal › Article › Academic › peer-review
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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
Rumping, L., Pouwels, P. J. W., Wolf, N. I., Rehmann, H., Wamelink, M. M. C., Waisfisz, Q., Jans, J. J. M., Prinsen, H. C. M. T., van de Kamp, J. M. & van Hasselt, P. M., 1 May 2023, In: JIMD reports. 64, 3, p. 217-222 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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SLC26A1 is a major determinant of sulfate homeostasis in humans
Pfau, A., López-Cayuqueo, K. I., Scherer, N., Wuttke, M., Wernstedt, A., González Fassrainer, D., Smith, D. E., van de Kamp, J. M., Ziegeler, K., Eckardt, K-U., Luft, F. C., Aronson, P. S., Köttgen, A., Jentsch, T. J. & Knauf, F., 1 Feb 2023, In: Journal of clinical investigation. 133, 3, e16184.Research output: Contribution to journal › Article › Academic › peer-review
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