Adelaide Research & Scholarship
Browsing "Paediatrics publications" by Author Nagy, R.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 2012 | Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene | Nagy, R.; Wang, H.; Albrecht, B.; Wieczorek, D.; Gillessen-Kaesbach, G.; Haan, E.; Meinecke, P.; de la Chapelle, A.; Westman, J. |
| 2011 | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I | He, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al. |