Amsterdam Cardiovascular Sciences
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Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American journal of medical genetics. Part A. 185, 12, p. 3814-3820 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status
Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., Jun 2021, In: Netherlands heart journal. 29, 6, p. 318-329 12 p.Research output: Contribution to journal › Article* › Academic › peer-review
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International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
James, C. A., Jongbloed, J. D. H., Hershberger, R. E., Morales, A., Judge, D. P., Syrris, P., Pilichou, K., Domingo, A. M., Murray, B., Cadrin-Tourigny, J., Lekanne Deprez, R., Celeghin, R., Protonotarios, A., Asatryan, B., Brown, E., Jordan, E., McGlaughon, J., Thaxton, C., Kurtz, C. L. & van Tintelen, J. P., Jun 2021, In: Circulation: Genomic and Precision Medicine. 14, 3, p. 273-284 12 p., e003273.Research output: Contribution to journal › Article* › Academic › peer-review
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