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Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations
Tromp, T. R., Reijman, M. D., Wiegman, A., Hovingh, G. K., Defesche, J. C., van Maarle, M. C. & Mathijssen, I. B., 1 Mar 2023, In: Journal of clinical lipidology. 17, 2, p. 291-296 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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De novo variants in the PABP domain of PABPC1 lead to developmental delay
Wegler, M., Jia, X., Alders, M., Bouman, A., Chen, J., Duan, X., Lauzon, J. L., Mathijssen, I. B., Sticht, H., Syrbe, S., Tan, S., Guo, H. & Abou Jamra, R., Aug 2022, In: Genetics in medicine. 24, 8, p. 1761-1773 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 others, 1 Apr 2022, In: Genetics in medicine. 24, 4, p. 965 1 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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