EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum:
Gespeichert in:
Hauptverfasser: | , , |
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Format: | Elektronisch E-Book |
Sprache: | English |
Veröffentlicht: |
Erlangen ; Nürnberg
Friedrich-Alexander-Universität Erlangen-Nürnberg
2021
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Schlagworte: | |
Online-Zugang: | Volltext Volltext Volltext |
Beschreibung: | 1 Online-Ressource |
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spelling | Hüffmeier, Ulrike Verfasser aut EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter [und 36 weitere] Erlangen ; Nürnberg Friedrich-Alexander-Universität Erlangen-Nürnberg 2021 1 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Archivierung/Langzeitarchivierung gewährleistet DE-101 pdager EIF3F gene Neurodevelopmental disorder Short stature Deafness Behavioral difficulties Altered muscular tone Kraus, Cornelia Verfasser aut Reuter, Miriam S. Verfasser aut Sonderdruck aus Orphanet Journal of Rare Diseases Vol. 16 (2021) 10.1186/s13023-021-01744-1 https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-176723 Resolving-System kostenfrei Volltext https://d-nb.info/1246524244/34 Langzeitarchivierung Nationalbibliothek kostenfrei Volltext application/pdf https://open.fau.de/handle/openfau/17672 Verlag kostenfrei Volltext 1\p aepkn 0,75249 20211127 DE-101 https://d-nb.info/provenance/plan#aepkn 2\p aepsg 0,99970 20211127 DE-101 https://d-nb.info/provenance/plan#aepsg 3\p npi 20211126 DE-101 https://d-nb.info/provenance/plan#npi |
spellingShingle | Hüffmeier, Ulrike Kraus, Cornelia Reuter, Miriam S. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum |
title | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum |
title_auth | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum |
title_exact_search | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum |
title_exact_search_txtP | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum |
title_full | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter [und 36 weitere] |
title_fullStr | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter [und 36 weitere] |
title_full_unstemmed | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter [und 36 weitere] |
title_short | EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum |
title_sort | eif3f related neurodevelopmental disorder refining the phenotypic and expanding the molecular spectrum |
url | https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-176723 https://d-nb.info/1246524244/34 https://open.fau.de/handle/openfau/17672 |
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