Amsterdam Cardiovascular Sciences
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PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis
van de Beek, I., Glykofridis, I. E., Oosterwijk, J. C., Akker, P. C., Diercks, G. F. H., Bolling, M. C., Waisfisz, Q., Mensenkamp, A. R., Balk, J. A., Zwart, R., Postma, A. V., Meijers-Heijboer, H. E. J., Moorselaar, R. J. A., Wolthuis, R. M. F. & Houweling, A. C., 20 Mar 2023, In: Human Molecular Genetics. 32, 7, p. 1223-1235 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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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Mirkov, M. U., 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 , Jan 2021, In: Genetics in medicine. 23, 1, p. 103-110 8 p.Research output: Contribution to journal › Article › Academic › peer-review
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