Adelaide Research & Scholarship
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https://hdl.handle.net/2440/140176
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| Type: | Conference item |
| Title: | 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 |
| Author: | 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. |
| Citation: | European Journal of Human Genetics, 2023, vol.31, iss.Suppl. 1, pp.9-10 |
| Publisher: | Springer |
| Issue Date: | 2023 |
| ISSN: | 1018-4813 1476-5438 |
| Conference Name: | 55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online) |
| Statement of Responsibility: | Alina Kurolap ... Clare van Eyk, Jozef Gecz ... et al. |
| Description: | Oral Presentation: CONCURRENT SESSIONSC01 NEW GENES IN NDDS -C01.6 |
| Rights: | © The Author(s), under exclusive licence to European Society of Human Genetics 2023 |
| DOI: | 10.1038/s41431-023-01337-5 |
| Grant ID: | http://purl.org/au-research/grants/nhmrc/GNT1145048 http://purl.org/au-research/grants/nhmrc/GNT1138870 |
| Published version: | https://www.nature.com/collections/idgiceffji |
| Appears in Collections: | Paediatrics publications |
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