Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/10/20 → 1/10/21 |
Research output
- 6 Original Article
-
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
Feichtinger, R. (First author), Hüllen, A., Koller, A. (Co-author), Kotzot, D. (Co-author), Grote, V., Rapp, E., Hofbauer, P., Brugger, K., Thiel, C., Mayr, J. A. (Co-author) & Wortmann, S. (Last author), 2021, In: EMBO MOLECULAR MEDICINE. 13, 9, p. e14332Research output: Contribution to journal › Original Article › peer-review
16 Citations (Web of Science) -
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap, Z. Y., Park, Y. H., Wortmann, S. (First author), Gunning, A. C., Ezer, S., Lee, S., Duraine, L., Wilichowski, E., Wilson, K., Mayr, J. A. (Co-author), Wagner, M., Li, H., Kini, U., Black, E. D., Monaghan, K. G., Lupski, J. R., Ellard, S., Westphal, D. S., Harel, T. & Yoon, W. H., 2021, In: GENOME MEDICINE. 13, 1, p. 55Research output: Contribution to journal › Original Article › peer-review
19 Citations (Web of Science) -
Multidisciplinary diagnostics of developmental disorders: basis for personalized precision medicine The "groundhog" consultation
Wortmann, S. (First author), Preisel, M., Feichtinger, R. (Co-author), Floride, E. (Co-author), Koch, J. (Co-author), Kleber, N., Kranewitter, K., Rauscher, C. (Co-author), Spenger, J. (Co-author), Steinbrucker, K., Sperl, W. (Co-author), Weghuber, D. (Co-author) & Mayr, J. A. (Last author), 2021, In: Monatsschrift Kinderheilkunde.Research output: Contribution to journal › Original Article › peer-review