Projects 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
Projects
- 1 Active
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Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations
Ensink, J., Krzyzewska, I., Li Yim, A., Mannens, M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R., Lombardi, P., Mook, O., Motazacker, M. & Redeker, B.
1/02/2007 → …
Project: Research
Research output
- 13 Article
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Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey
ten Dam, L., de Visser, M., Ginjaar, I. B., van Duyvenvoorde, H. A., van Koningsbruggen, S. & van der Kooi, A. J., 2021, In: Journal of neuromuscular diseases. 8, 2, p. 261-272 12 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)
Verhoeven, D., Schonenberg-Meinema, D., Ebstein, F., Papendorf, J. J., Baars, P. A., van Leeuwen, E. M. M., Jansen, M. H., Lankester, A. C., van der Burg, M., Florquin, S., Maas, S. M., van Koningsbruggen, S., Krüger, E., van den Berg, J. M. & Kuijpers, T. W., 2021, (E-pub ahead of print) In: Journal of allergy and clinical immunology.Research output: Contribution to journal › Article › Academic › peer-review
Open Access10 Citations (Scopus) -
Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing
van de Burgt, N., van Koningsbruggen, S., Behrens, L., Leibold, N., Martinez-Martinez, P., Mannens, M. & van Amelsvoort, T., 1 Jun 2021, In: Journal of Psychiatric Research. 138, p. 125-129 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A., Geneviève, D., & 31 others , 1 Dec 2020, In: Journal of medical genetics. 57, 12, p. 808-819 12 p., 106508.Research output: Contribution to journal › Article › Academic › peer-review
11 Citations (Scopus) -
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid
Lubout, C. M. A., Goorden, S. M. I., van den Hurk, K., Jaeger, B., Jager, N. G. L., van Koningsbruggen, S., Chegary, M. & van Karnebeek, C. D. M., Jan 2020, In: Pediatric neurology. 102, p. 62-66 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access9 Citations (Scopus)