Molecular characterization of the calcium release channel deficiency syndrome

Autor Tester, David J., Kim, CS John, Hamrick, Samantha K., Ye, Dan, O’Hare, Bailey J., Bombei, Hannah M., Fitzgerald, Kristi K., Haglund-Turnquist, Carla M., Atkins, Dianne L., Nunez, Luis A. Ochoa, Law, Ian, Temple, Joel, Ackerman, Michael J.
Vydáno v JCI Insight (2020)

Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

Autor Tester, David J., Bombei, Hannah M., Fitzgerald, Kristi K., Giudicessi, John R., Pitel, Beth A., Thorland, Erik C., Russell, Barbara G., Hamrick, Samantha K., Kim, C. S. John, Haglund-Turnquist, Carla M., Johnsrude, Christopher L., Atkins, Dianne L., Ochoa Nunez, Luis A., Law, Ian, Temple, Joel, Ackerman, Michael J.
Vydáno v JAMA Cardiol (2020)