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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Rooney, K., van der Laan, L., Trajkova, S., Haghshenas, S., Relator, R., Lauffer, P., Vos, N., Levy, M. A., Brunetti-Pierri, N., Terrone, G., Mignot, C., Keren, B., de Villemeur, T. B., Volker-Touw, C. M. L., Verbeek, N., van der Smagt, J. J., Oegema, R., Brusco, A., Ferrero, G. B., Misra-Isrie, M., & 6 others , 1 Aug 2023, In: Genetics in medicine. 25, 8, 100871.Research output: Contribution to journal › Article › Academic › peer-review
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Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
Hochstenbach, PFR., Hastings, R. J. & Liehr, T., Apr 2021, In: European Journal of Human Genetics. 29, 4, p. 541-552 12 p., PMID: 33311710.Research output: Contribution to journal › Review article › Academic › peer-review
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Prevalence and Phenotypic Impact of Robertsonian Translocations
Hochstenbach, PFR. & Poot, M., 2021, In: Molecular syndromology. 12, 1, p. 1-11 11 p., PMID: 33776621.Research output: Contribution to journal › Review article › Academic › peer-review
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