Research output per year
Research output per year
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Dive into the research topics where Danielle van der Kaay is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients
Punt, L. D., van der Kaay, D. C. M., van Setten, P. A., de Groote, K., Kruijsen, A. R., Bocca, G., de Munnik, S. A., Renes, J. S., de Bruin, C., Losekoot, M., van Duyvenvoorde, H. A., Wit, J. M. & Joustra, S. D., 28 Jun 2024, In: Hormone Research in Paediatrics. p. 1-11 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Web of Science)7 Downloads (Pure) -
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., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., Van Der Zee, J. A., Van Genderen, M. M., Van-Gils, J., Waite, J., Adrien, J. L. & Bartsch, O. & 32 others, , 1 Jun 2024, In: Journal of medical genetics. 61, 6, p. 503-519 17 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile11 Citations (Scopus)23 Downloads (Pure) -
Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis
Renes, J. S., Sas, T. C. J., Clement-de Boers, A., Zwaveling-Soonawala, N., Hannema, S. E., van der Velden, J. A. E. M., van der Kaay, D. C. M. & Hokken-Koelega, A. C. S., Jun 2024, In: Hormone Research in Paediatrics. p. 1-8 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Web of Science)3 Downloads (Pure) -
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome
Maharaj, A. V., Cottrell, E., Thanasupawat, T., Joustra, S. D., Triggs-Raine, B., Fujimoto, M., Kant, S. G., van der Kaay, D., Clement-De Boers, A., Brooks, A. S., Aguirre, G. A., del Estal, I. M., de Cortázar Larrea, M. I. C., Massoud, A., van Duyvenvoorde, H. A., De Bruin, C., Hwa, V., Klonisch, T., Hombach-Klonisch, S. & Storr, H. L., 22 Mar 2024, In: JCI insight. 9, 6, e169425.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus) -
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data
Renes, J. S., Reedijk, A. M. J., Losekoot, M., Kant, S. G., Van Der Steen, M., Van Der Kaay, D. C. M., Hokken-Koelega, A. C. S., Van Duyvenvoorde, H. A. & De Bruin, C., 17 Jan 2024, In: Hormone Research in Paediatrics. 97, 5, p. 456-469 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)