Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Christoph Heyer"'
Autor:
Sören Janßen, Leoni S. Erbe, Moritz Kneifel, Matthias Vorgerd, Kristina Döring, Krzysztof P. Lubieniecki, Joanna M. Lubieniecka, Wanda M. Gerding, Nicolas Casadei, Anne-Katrin Güttsches, Christoph Heyer, Thomas Lücke, Hoa Huu Phuc Nguyen, Cornelia Köhler, Sabine Hoffjan
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10867 (2024)
Pathogenic variants in the ryanodine receptor 1 (RYR1) gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive
Externí odkaz:
https://doaj.org/article/33e46c38d76d4c789dd7917df24a1779
Autor:
Susan Halimeh, Christoph Heyer, Christine Decker, T. Lücke, Kristine Adam, G. Kappert, Charlotte Thiels, Leo Rossler
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e3c39bf0404721e025ead268d83fc1e
https://doi.org/10.1055/s-0038-1675972
https://doi.org/10.1055/s-0038-1675972