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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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Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5
Dominguez, F., Zorio, E., Jimenez-Jaimez, J., Salguero-Bodes, R., Zwart, R., Gonzalez-Lopez, E., Molina, P., Bermúdez-Jiménez, F., Delgado, J. F., Braza-Boïls, A., Bornstein, B., Toquero, J., Segovia, J., van Tintelen, J. P., Lara-Pezzi, E. & Garcia-Pavia, P., 1 Jun 2020, In: Heart rhythm. 17, 6, p. 945-954 10 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo
van Lint, F. H. M., Murray, B., Tichnell, C., Zwart, R., Amat, N., Lekanne Deprez, R. H., Dittmann, S., Stallmeyer, B., Calkins, H., van der Smagt, J. J., van den Wijngaard, A., Dooijes, D., van der Zwaag, P. A., Schulze-Bahr, E., Judge, D. P., Jongbloed, J. D. H., van Tintelen, J. P. & James, C. A., 2019, In: Circulation. Genomic and precision medicine. 12, 8, p. e002467Research output: Contribution to journal › Article* › Academic › peer-review
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