Adelaide Research & Scholarship
Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/140176
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Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Kurolap, A. | - |
| dc.contributor.author | Kreuder, F. | - |
| dc.contributor.author | Gonzaga-Jauregui, C. | - |
| dc.contributor.author | Duvdevani, M.P. | - |
| dc.contributor.author | Harel, T. | - |
| dc.contributor.author | Tammer, L. | - |
| dc.contributor.author | Xin, B. | - |
| dc.contributor.author | Bakhtiari, S. | - |
| dc.contributor.author | Rice, J. | - |
| dc.contributor.author | van Eyk, C. | - |
| dc.contributor.author | Gecz, J. | - |
| dc.contributor.author | Mah, J.K. | - |
| dc.contributor.author | Atkinson, D. | - |
| dc.contributor.author | Cope, H. | - |
| dc.contributor.author | Sullivan, J.A. | - |
| dc.contributor.author | Douek, A.M. | - |
| dc.contributor.author | Colquhoun, D. | - |
| dc.contributor.author | Henry, J. | - |
| dc.contributor.author | Wlodkowic, D. | - |
| dc.contributor.author | Parman, Y. | - |
| dc.contributor.author | et al. | - |
| dc.date.issued | 2023 | - |
| dc.identifier.citation | European Journal of Human Genetics, 2023, vol.31, iss.Suppl. 1, pp.9-10 | - |
| dc.identifier.issn | 1018-4813 | - |
| dc.identifier.issn | 1476-5438 | - |
| dc.identifier.uri | https://hdl.handle.net/2440/140176 | - |
| dc.description | Oral Presentation: CONCURRENT SESSIONSC01 NEW GENES IN NDDS -C01.6 | - |
| dc.description.statementofresponsibility | Alina Kurolap ... Clare van Eyk, Jozef Gecz ... et al. | - |
| dc.language.iso | en | - |
| dc.publisher | Springer | - |
| dc.rights | © The Author(s), under exclusive licence to European Society of Human Genetics 2023 | - |
| dc.source.uri | https://www.nature.com/collections/idgiceffji | - |
| dc.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 | - |
| dc.type | Conference item | - |
| dc.contributor.conference | 55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online) | - |
| dc.identifier.doi | 10.1038/s41431-023-01337-5 | - |
| dc.relation.grant | http://purl.org/au-research/grants/nhmrc/GNT1145048 | - |
| dc.relation.grant | http://purl.org/au-research/grants/nhmrc/GNT1138870 | - |
| pubs.publication-status | Published | - |
| dc.identifier.orcid | van Eyk, C. [0000-0003-0345-9944] | - |
| dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
| Appears in Collections: | Paediatrics publications | |
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