Children’s National Health System


Hospital

Location:
Washington, DC, United States (USA)


Publications in cooperation with FAU scientists


Zweier, M., Begemann, A., Mcwalter, K., Cho, M.T., Abela, L., Banka, S.,... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics, 27(5), 747-759. https://dx.doi.org/10.1038/s41431-018-0331-z
Saunier, C., Stove, S.I., Popp, B., Gerard, B., Blenski, M., Ahmew, N.,... Zweier, C. (2016). Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. Human Mutation, 37(8), 755-64. https://dx.doi.org/10.1002/humu.23001
Durmus, H., Ayhan, O., Cirak, S., Deymeer, F., Parman, Y., Franke, A.,... Serdaroglu-Oflazer, P. (2016). Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Neurology, 87(8), 799-805. https://dx.doi.org/10.1212/WNL.0000000000003004

Last updated on 2017-20-04 at 08:41