Research output per year
Research output per year
Research output
- 2 Article
-
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
Kuo, ME., Theil, A., Kievit, A., Malicdan, MC., Introne, WJ., Christian, T., Verheijen, F., Smith, DEC., Mendes, MI., Odijk, L., Meijden, E., van Slegtenhorst, M., Wilke, M., Vermeulen, W., Raams, A., Groden, C., Shimada, S., Meyer-Schuman, R., Hou, YM., Gahl, WA., & 3 others, 2019, In: American Journal of Human Genetics. 104, 3, p. 520-529 10 p.Research output: Contribution to journal › Article › Academic › peer-review
20 Citations (Scopus) -
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
Vaz, FM., Scholte, J., Ruiter, J., Odijk, L., Rodrigues Pereira, R., Schweitzer, S., Klerk, H., Waterham, HR. & Wanders, RJA., 1999, In: Human Genetics. 105, p. 157-161 5 p.Research output: Contribution to journal › Article › Academic › peer-review
57 Citations (Scopus)