Floor Duijkers

Diagnosis and management in Rubinstein-Taybi syndrome: First international consensus statement

Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E. B., Houge, S. D., García-Miñaúr, S., Kayserili, H. L., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., van der Zee, J. A., Genderen, M. M. V., van-Gils, J., Waite, J., Adrien, J-L., Bartsch, O., & 32 othersBitoun, P., Bouts, A. H. M., Cueto-González, A. M., Dominguez-Garrido, E., Duijkers, F. A., Fergelot, P., Halstead, E., Huisman, S. A., Meossi, C., Mullins, J., Nikkel, S. M., Oliver, C., Prada, E., Rei, A., Riddle, I., Rodriguez-Fonseca, C., Pena, R. R., Russell, J., Saba, A., Santos-Simarro, F., Simpson, B. N., Smith, D. F., Stevens, M. F., Szakszon, K., Taupiac, E., Totaro, N., Palafoll, I. V., van der Kaay, D. C. M., van Wijk, M. P., Vyshka, K., Wiley, S. & Hennekam, R. C., 1 Jun 2024, In: Journal of medical genetics. 61, 6, p. 503-519 17 p., jmg-2023-109438.

Research output: Contribution to journal › Article › Academic › peer-review

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

Bakhuizen, J. J., Postema, F. A. M., van Rijn, R. R., van Schuppen, J., Duijkers, F. A. M., van Noesel, C. J. M., Hennekam, R. C., Jongmans, M. C. J., Savci-Heijink, C. D., Smetsers, S. E., Terheggen-Lagro, S. W. J., Hopman, S. M. J., Oomen, M. W. N. & Merks, J. H. M., 1 Mar 2024, In: Journal of Pediatric Surgery. 59, 3, p. 459-463 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

Bakhuizen, J. J., Postema, F. A. M., van Rijn, R. R., van Schuppen, J., Duijkers, F. A. M., van Noesel, C. J. M., Hennekam, R. C., Jongmans, M. C. J., Savci-Heijink, C. D., Smetsers, S. E., Terheggen-Lagro, S. W. J., Hopman, S. M. J., Oomen, M. W. N. & Merks, J. H. M., 21 Oct 2023, (E-pub ahead of print) In: Journal of Pediatric Surgery.

Research output: Contribution to journal › Article › Academic › peer-review