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Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features
dc.affiliation | Uniwersytet Warszawski |
dc.contributor.author | Korniszewski, Lech |
dc.contributor.author | Jakubowski, Rafał |
dc.contributor.author | Pollak, Agnieszka |
dc.contributor.author | MIKA, ADRIANA |
dc.contributor.author | Śladowski, Dariusz |
dc.contributor.author | Kutkowska-Kaźmierczak, Anna |
dc.contributor.author | Chlebowski, Aleksander |
dc.contributor.author | Kłosowska-Kosicka, Kamila |
dc.contributor.author | Rydzanicz, Małgorzata |
dc.contributor.author | GRUCHOTA, JAKUB |
dc.contributor.author | Jurkiewicz, Elżbieta |
dc.contributor.author | Kowalewski, Cezary |
dc.contributor.author | Stradomska, Teresa |
dc.contributor.author | Kmieć, Tomasz |
dc.contributor.author | Gasperowicz, Piotr |
dc.contributor.author | Walczak, Anna |
dc.contributor.author | Jankowska-Steifer, Ewa |
dc.contributor.author | Kosińska, Joanna |
dc.contributor.author | Obersztyn, Ewa |
dc.contributor.author | Nowak, Wiesław |
dc.contributor.author | Śledziński, Tomasz |
dc.contributor.author | Dziembowski, Andrzej |
dc.contributor.author | Płoski, Rafał |
dc.date.accessioned | 2024-01-24T22:12:24Z |
dc.date.available | 2024-01-24T22:12:24Z |
dc.date.issued | 2018 |
dc.description.finance | Nie dotyczy |
dc.description.number | 6 |
dc.description.volume | 55 |
dc.identifier.doi | 10.1136/JMEDGENET-2017-105172 |
dc.identifier.issn | 0022-2593 |
dc.identifier.uri | https://repozytorium.uw.edu.pl//handle/item/105215 |
dc.identifier.weblink | http://jmg.bmj.com/ |
dc.language | eng |
dc.relation.ispartof | Journal of Medical Genetics |
dc.relation.pages | 408-414 |
dc.rights | ClosedAccess |
dc.sciencecloud | nosend |
dc.title | Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features |
dc.type | JournalArticle |
dspace.entity.type | Publication |