Research output per year
Research output per year
Fingerprint
Dive into the research topics where Agnies van Eeghen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review
Kwetsie, H., van Schaijk, M., Van Der Lee, S., Maes-Festen, D., Ten Hoopen, L. W., van Haelst, M. M., Coesmans, M., Van Den Berg, E., De Wit, M. C. Y., Pijnenburg, Y., Aronica, E., Boot, E. & Van Eeghen, A. M., 11 Jun 2024, In: Neurology. 102, 11, e209413.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)6 Downloads (Pure) -
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes: from clinical manifestations towards personalized treatment options
Vos, N., Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., 11 Apr 2024, (E-pub ahead of print) In: European journal of human genetics : EJHG. 15 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
van Eeghen, A. M., European Phelan-McDermid syndrome guideline consortium, ERN ITHACA Guideline Working Group, Gaasterland, C. M. W., Haneveld, M. J. K., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Maruani, A., Maruani, A., Hadzsiev, K., Hadzsiev, K., van Balkom, I. D. C., van Balkom, I. D. C., van Balkom, I. D. C. & Alhambra, N. & 32 others, , Jul 2023, In: European Journal of Medical Genetics. 66, 7, 104747.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)25 Downloads (Pure) -
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study
von Scheibler, E. N. M. M., van der Valk Bouman, E. S., Nuijts, M. A., Bauer, N. J. C., Berendschot, T. T. J. M., Vermeltfoort, P., Bok, L. A., van Eeghen, A. M., Houben, M. L., van Amelsvoort, T. A. M. J., Boot, E. & van Egmond-Ebbeling, M. B., Feb 2022, In: American Journal of Medical Genetics, Part A. 188, 2, p. 569-578 10 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile5 Citations (Scopus)84 Downloads (Pure) -
What every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical complications: Five years of ‘internal medicine for rare genetic syndromes’
Rosenberg, A. G. W., Pater, M. R. A., Pellikaan, K., Davidse, K., Kattentidt-Mouravieva, A. A., Kersseboom, R., Bos-Roubos, A. G., Van Eeghen, A., Veen, J. M. C., Van Der Meulen, J. J., Van Aalst-Van Wieringen, N., Hoekstra, F. M. E., Van Der Lely, A. J. & De Graaff, L. C. G., 22 Nov 2021, In: Journal of Clinical Medicine. 10, 22, 5457.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Citations (Scopus)19 Downloads (Pure)