Genetics in medicine open - Genet Med Open

Publications

  1. 2023
  2. Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

    Postma, A. V., Rapp, C. K., Knoflach, K., Volk, A. E., Lemke, J. R., Ackermann, M., Regamey, N., Latzin, P., Celant, L., Jansen, S. M. A., Bogaard, H. J., Ilgun, A., Alders, M., van Spaendonck-Zwarts, K. Y., Jonigk, D., Klein, C., Gräf, S., Kubisch, C., Houweling, A. C. & Griese, M., 2023, In: Genetics in medicine open. 1, 1, p. 100811

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review