Research output per year
Research output per year
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
van de Beek, I., Glykofridis, I. E., Tanck, M. W. T., Luijten, M. N. H., Starink, T. M., Balk, J. A., Johannesma, P. C., Hennekam, E., van den Hoff, M. J. B., Gunst, Q. D., Gille, J. J. P., Polstra, A. M., Postmus, P. E., van Steensel, M. A. M., Postma, A. V., Wolthuis, R. M. F., Menko, F. H., Houweling, A. C. & Waisfisz, Q., 2023, (E-pub ahead of print) In: Journal of human genetics.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships
Lauffer, P., Pals, G., Zwinderman, A. H., Postema, F. A. M., Baars, M. J. H., Dulfer, E., Hilhorst-Hofstee, Y., Houweling, A. C., Kempers, M., Krapels, I. P. C., van de Laar, I. M. B. H., Loeys, B., Spaans, A. M. J., Warnink-Kavelaars, J., de Waard, V., Wit, J. M. & Menke, L. A., Feb 2023, In: American Journal of Medical Genetics, Part A. 191, 2, p. 479-489 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
The Netherlands Heart Tissue Bank: Strengthening the cardiovascular research infrastructure with an open access Cardiac Tissue Repository
Henkens, M. T. H. M., van Ast, J. F., te Riele, A. S. J. M., Houweling, A. C., Amin, A. S., Nijveldt, R., Antoni, M. L., Li, X., Wehrens, S. M. T., von der Thüsen, J. H., Damman, K., ter Horst, E. N., Manintveld, O. C., Abma-Schouten, R. Y., Niessen, H. W. M., Silljé, H. H. W., Jukema, J. W. & Doevendans, P. A., 1 Jan 2023, In: Netherlands Heart Journal. 31, 1, p. 16-20 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice
Sriram, J. D., van de Beek, I., Johannesma, P. C., van Werkum, M. H., van der Wel, T. J. W. T., Wessels, E. M., Gille, H. J. J. P., Houweling, A. C., Postmus, P. E. & Smit, H. J. M., 1 Dec 2022, In: BMC Pulmonary Medicine. 22, 1, 325.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
van de Beek, I., Glykofridis, I. E., Wagner, A., den Toom, D. T., Bongers, E. M. H. F., van Leenders, G. J. L. H., Johannesma, P. C., Meijers-Heijboer, H. E. J., Wolthuis, R. M. F., van Steensel, M. A. M., Dubbink, H. J. & Houweling, A. C., 2022, (E-pub ahead of print) In: Molecular Genetics and Genomic Medicine.Research output: Contribution to journal › Article › Academic › peer-review
Open Access
Prizes
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CVON DOLPHIN-GENESIS: Detection of Latent Pulmonary Hypertension In Genetically Susceptible Individuals
Bogaard, Harm Jan (Recipient), van Tintelen, Peter (Recipient), Christiaans, Imke (Recipient), Goumans, Marie-José T. H. (Recipient), de Man, Frances (Recipient), Houweling, Arjan (Recipient) & Vonk Noordegraaf, Anton (Recipient), 2017
Prize: Honorary award