Amsterdam Cardiovascular Sciences
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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
German Competence Network for Congenital Heart Defects, Oct 2021, In: Genetics in medicine. 23, 10, p. 1952-1960 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Lahrouchi, N., Postma, A. V., Salazar, C. M., de Laughter, D. M., Tjong, F., Piherová, L., Bowling, F. Z., Zimmerman, D., Lodder, E. M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Škorić-Milosavljević, D., Stránecký, V., Tomek, V., de Knijff, P. & de Leeuw, R. & 36 others, , 1 Mar 2021, In: Journal of clinical investigation. 131, 5, e142148.Research output: Contribution to journal › Article* › Academic › peer-review
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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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