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Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
Maas, S. M., Krzyzewska, I. M., Lombardi, M. P. R., Mannens, M. M. A., Vos, N. & Bliek, J., Jun 2023, In: European Journal of Human Genetics. 31, 6, p. 615-616 2 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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Sex-specific newborn screening for X-linked adrenoleukodystrophy
Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 others , 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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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Mackay, D., Bliek, J., Kagami, M., Tenorio-Castano, J., Pereda, A., Brioude, F., Netchine, I., Papingi, D., de Franco, E., Lever, M., Sillibourne, J., Lombardi, P., Gaston, V., Tauber, M., Diene, G., Bieth, E., Fernandez, L., Nevado, J., Tümer, Z., Riccio, A., & 9 others , Dec 2022, In: Clinical epigenetics. 14, 1, 143.Research output: Contribution to journal › Article › Academic › peer-review
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