Research output per year
Research output per year
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
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Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy
1 Aug 2024, In: JCO oncology practice. 20, 8, p. 1027-1034 8 p.Research output: Contribution to journal › Letter › Academic › peer-review
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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Sidpra, J., Sudhakar, S., Biswas, A., Massey, F., Turchetti, V., Lau, T., Cook, E., Alvi, J. R., Elbendary, H. M., Jewell, J. L., Riva, A., Orsini, A., Vignoli, A., Federico, Z., Rosenblum, J., Schoonjans, A.-S., de Wachter, M., Delgado Alvarez, I., Felipe-Rucián, A. & Haridy, N. A. & 38 others, , Aug 2024, In: Brain : a journal of neurology. 147, 8, p. 2775–2790 16 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports
Ferreira, E. A., Hofstede, F. C., Haijes-Siepel, H. A., Lichtenbelt, K. D., Pistorius, L., de Sain-van der Velden, M. G. M., Nikkels, P. G. J., Lequin, M. H., de Vries, L. S., van der Crabben, S. N. & van Hasselt, P. M., Jan 2024, In: Genetics in Medicine Open. 2, 101853.Research output: Contribution to journal › Article › Academic › peer-review
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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
Jun 2023, In: European Journal of Pediatrics. 182, 6, p. 2683-2692 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Downloads (Pure) -
The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study
Severijns, Y., Heijmans, M. W. F., de Die-Smulders, C. E. M., Bijlsma, E. K., Corsten-Janssen, N., Joosten, S. J. R., van Kuijk, S. M. J., Lichtenbelt, K. D., Ottenheim, C. P. E., Stuurman, K. E., Tan-Sindhunata, G. M. B., de Vries, H. & van Osch, L. A. D. M., Feb 2023, In: Journal of Genetic Counseling. 32, 1, p. 153-165 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure)
Activities
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Timing of cerebral damage in molybdenum cofactor deficiency: a meta-analysis of case reports
van Hasselt, P. (Speaker), Ferreira, E. (Speaker), Hofstede, F. (Speaker), Siepel, H. (Speaker), Lichtenbelt, K. (Speaker), Pistorius, L. (Speaker), Wamelink, M. M. C. (Speaker), de Sain-van der Velden, M. (Speaker), Nikkels, P. (Speaker), Lequin, M. (Speaker), de Vries, L. (Speaker) & van der Crabben, S. (Speaker)
3 Sept 2024 → 6 Sept 2024Activity: Talk or presentation › Oral presentation › Academic
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Prenatale en preomplantatie diagnostiek
Klaske Lichtenbelt (Speaker)
20 Nov 2014Activity: Talk or presentation › Oral presentation › Academic
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Mogelijkheden en uitdagingen in de prenatale genetische diagnostiek
Klaske Lichtenbelt (Speaker)
20 Jun 2013Activity: Talk or presentation › Oral presentation › Academic
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Over de keuze van zwangeren (een analyse van 20.000 combitesten)
Klaske Lichtenbelt (Speaker)
27 Mar 2013Activity: Talk or presentation › Oral presentation › Academic
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Prenatale arrays: counseling voor en na de uitslag
Klaske Lichtenbelt (Speaker)
24 May 2012Activity: Talk or presentation › Oral presentation › Academic