Adelaide Research & Scholarship
Browsing "Paediatrics publications" by Author 55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online)
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| 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) |
