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DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan, L., Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M. A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A. K., Li, D., Vissers, L. E. L. M., Dingemans, A. J. M., Valenzuela, I., Verberne, E. A., Misra-Isrie, M., Zwijnenburg, P. J. G., & 8 others , 18 Dec 2023, (E-pub ahead of print) In: Genetics in medicine. p. 101050Research output: Contribution to journal › Article › Academic › peer-review
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Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema: old and new players in controlling brain oedema
van der Knaap, M. S., Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., Abbink, T. E. M., Kole, M. H. P., Leurs, R., Vischer, H. F., Brignone, M. S., Ambrosini, E., Feillet, F., & 4 others , 1 Aug 2023, In: Brain : a journal of neurology. 146, 8, p. 3444-3454 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
on behalf of RADICON-NL consortium, Jun 2023, In: European journal of pediatrics. 182, 6, p. 2683-2692 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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