Adelaide Research & Scholarship
Browsing "Paediatrics" by Author Xin, B.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 2023 | Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity | Kurolap, A.; Kreuder, F.; Gonzaga-Jauregui, C.; Duvdevani, M.P.; Harel, T.; Tammer, L.; Xin, B.; Bakhtiari, S.; Rice, J.; van Eyk, C.; Gecz, J.; Mah, J.K.; Atkinson, D.; Cope, H.; Sullivan, J.A.; Douek, A.M.; Colquhoun, D.; Henry, J.; Wlodkowic, D.; Parman, Y.; et al.; 55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online) |
| 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. |