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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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Kiewiet, G., Westra, D., de Boer, E. N., van Berkel, E., Hofste, T. G. J., van Zweeden, M., Derks, R. C., Leijsten, N. F. A., Ruiterkamp-Versteeg, M. H. A., Charbon, B., Johansson, L., Bos-Kruizinga, J., Veenstra, I. J., de Sain-van der Velden, M. G. M., Voorhoeve, E., Heiner-Fokkema, M. R., van Spronsen, F., Sikkema-Raddatz, B. & Nelen, M., 7 Mar 2024, In: International Journal of Neonatal Screening. 10, 1, 17 p., 20.Research output: Contribution to journal › Article › Academic › peer-review
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Veldman, A., Sikkema-Raddatz, B., Derks, T. G. J., van Karnebeek, C. D. M., Kiewiet, M. B. G., Mulder, M. F., Nelen, M. R., Rubio-Gozalbo, M. E., Sinke, R. J., de Sain-van der Velden, M. G., Visser, G., de Vries, M. C., Westra, D., Williams, M., Wevers, R. A., Heiner-Fokkema, M. R. & van Spronsen, F. J., 28 Dec 2024, In: International Journal of Neonatal Screening. 11, 1, 26 p., 1.Research output: Contribution to journal › Article › Academic › peer-review
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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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UPLC-Orbitrap-HRMS application for analysis of plasma sterols
van der Ham, M., Gerrits, J., Prinsen, B., van Hasselt, P., Fuchs, S., Jans, J., Willems, A. & de Sain-van der Velden, M., 1 Apr 2024, In: Analytica Chimica Acta. 1296, 10 p., 342347.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B. & Visser, G. & 4 others, , 11 Oct 2023, In: International Journal of Neonatal Screening. 9, 4, 56.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile11 Downloads (Pure)
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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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Expanding new born screening for PA and MMA
Monique de Sain-van der Velden (Speaker)
13 Nov 2013Activity: Talk or presentation › Oral presentation › Academic
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Newborn screening, the exciting World
Monique de Sain-van der Velden (Speaker)
3 Oct 2013Activity: Talk or presentation › Oral presentation › Academic
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Nephrology Dialysis Transplantation (Journal)
Monique de Sain-van der Velden (Editor)
2004Activity: Publication peer-review and editorial work › Editorial activity › Academic