Research output per year
Research output per year
Research output
- 8 Article
- 8 results
Search results
-
2023
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, J., Schot, R., Bongaerts, M., de Valk, W. G., van Veghel-Plandsoen, M. M., Monfils, K., Douben, H., Elfferich, P., Kasteleijn, E., van Unen, L. M. A., Geeven, G., Saris, J. J., van Ierland, Y., Verheijen, F. W., van der Sterre, M. L. T., Sadeghi Niaraki, F., Smits, D. J., Huidekoper, H. H., Williams, M. & Wilke, M. & 9 others, , 2 Feb 2023, In: American Journal of Human Genetics. 110, 2, p. 251-272 22 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access26 Citations (Scopus) -
2022
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease
Verhagen, J. M. A., Burger, J., Bekkers, J. A., Den Dekker, A. T., von der Thüsen, J. H., Zajec, M., Brüggenwirth, H. T., van der Sterre, M. L. T., van den Born, M., Luider, T. M., van IJcken, W. F. J., Wessels, M. W., Essers, J., Roos-Hesselink, J. W., van der Pluijm, I., van de Laar, I. M. B. H. & Brosens, E., Jan 2022, In: International Journal of Molecular Sciences. 23, 1, 438.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Citations (Scopus)57 Downloads (Pure) -
2019
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
Vandervore, L., Schot, R., Kasteleijn, E., Oegema, R., Stouffs, K., Gheldof, A., Grochowska, M., Sterre, M., Unen, L., Wilke, M., Elfferich, P., van der Spek, P., Heijsman, D., Grandone, A., Demmers, J., Dekkers, D., Slotman, J., Kremers, G.-J., Schaaf, G. & Masius, R. & 12 others, , 2019, In: Brain. 142, p. 867-884 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile24 Citations (Scopus)38 Downloads (Pure) -
2007
Prenatal diagnosis of Xeroderma pigmentosum and Trichothiodystrophy in 76 pregnancies at risk
Kleijer, W., Sterre, M., Garritsen, V., Raams, A. & Jaspers, K., 2007, In: Prenatal Diagnosis. 27, 12, p. 1133-1137 5 p.Research output: Contribution to journal › Article › Academic › peer-review
11 Citations (Scopus) -
2006
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
Linnebank, M., Kemp, S., Wanders, R., Kleijer, W., Sterre, M., Gartner, J., Fliessbach, K., Semmler, A., Sokolowski, P., Kohler, W., Schlegel, U., Schmidt, S., Klockgether, T. & Wullner, U., 2006, In: Neurology. 66, 3, p. 442-443 2 p.Research output: Contribution to journal › Article › Academic › peer-review
15 Citations (Scopus) -
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia
Kleijer, W., Garritsen, V., Sterre, M., Berning, C., Haberle, J. & Huijmans, J., 2006, In: Prenatal Diagnosis. 26, 3, p. 242-247 6 p.Research output: Contribution to journal › Article › Academic › peer-review
19 Citations (Scopus) -
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
Kleijer, W., Sterre, M., Garritsen, V., Raams, A. & Jaspers, K., 2006, In: Prenatal Diagnosis. 26, 10, p. 980-984 5 p.Research output: Contribution to journal › Article › Academic › peer-review
18 Citations (Scopus) -
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy
Linnebank, M., Semmler, A., Kleijer, W., Sterre, M., Gartner, J., Fliessbach, K., Sokolowski, P., Kohler, W., Schlegel, U., Klockgether, T., Wanders, R., Schmidt, S., Wullner, U. & Kemps, S., 2006, In: Human Mutation. 27, p. 1063-1064 2 p.Research output: Contribution to journal › Article › Academic › peer-review
11 Citations (Scopus)