Amsterdam Reproduction & Development
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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
Relator, R., Levy, M. A., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Zweier, C., Fischer, J., Faivre, L., Mesman, S., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Sadikovic, B., Vitobello, A. & Menke, L. A., 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 10 p., 100289.Research output: Contribution to journal › Article › Academic › peer-review
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Sex-specific newborn screening for X-linked adrenoleukodystrophy
Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ferdinandusse, S., Vaz, F. M., Dekkers, E., Engelen, M. & Kemp, S., 17 Jan 2023, In: Journal of inherited metabolic disease. 46, 1, p. 116-128 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome
Hennekam, R. C. M., Alders, M. & van Haelst, M. M., Jan 2023, In: European journal of human genetics. 31, 1, p. 16-17 2 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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