SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss:
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Erlangen
Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
2016
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| Schlagworte: | |
| Online-Zugang: | Volltext Volltext Volltext |
| Beschreibung: | Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0509-9> |
| Beschreibung: | Online-Ressource |
| Format: | Langzeitarchivierung gewährleistet, LZA |
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Datensatz im Suchindex
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| author | Buchert, Rebecca Nesbitt, Addie I. Tawamie, Hasan Krantz, Ian D. Medne, Livija Helbig, Ingo Matalon, Dena R. Reis, Andre Santani, Avni Sticht, Heinrich Jamra, Rami Abou |
| author_facet | Buchert, Rebecca Nesbitt, Addie I. Tawamie, Hasan Krantz, Ian D. Medne, Livija Helbig, Ingo Matalon, Dena R. Reis, Andre Santani, Avni Sticht, Heinrich Jamra, Rami Abou |
| author_role | aut aut aut aut aut aut aut aut aut aut aut |
| author_sort | Buchert, Rebecca |
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| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 610 - Medicine and health |
| dewey-raw | 610 |
| dewey-search | 610 |
| dewey-sort | 3610 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Electronic eBook |
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| illustrated | Not Illustrated |
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| spelling | Buchert, Rebecca Verfasser aut SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2016 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0509-9> Langzeitarchivierung gewährleistet, LZA Microcephaly Hearing loss Hypotonia NGS Nesbitt, Addie I. Verfasser aut Tawamie, Hasan Verfasser aut Krantz, Ian D. Verfasser aut Medne, Livija Verfasser aut Helbig, Ingo Verfasser aut Matalon, Dena R. Verfasser aut Reis, Andre Verfasser aut Santani, Avni Verfasser aut Sticht, Heinrich Verfasser aut Jamra, Rami Abou Verfasser aut https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80931 Resolving-System kostenfrei Volltext http://d-nb.info/112328475X/34 Langzeitarchivierung Nationalbibliothek kostenfrei Volltext https://open.fau.de/handle/openfau/8093 Verlag kostenfrei Volltext |
| spellingShingle | Buchert, Rebecca Nesbitt, Addie I. Tawamie, Hasan Krantz, Ian D. Medne, Livija Helbig, Ingo Matalon, Dena R. Reis, Andre Santani, Avni Sticht, Heinrich Jamra, Rami Abou SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss |
| title | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss |
| title_auth | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss |
| title_exact_search | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss |
| title_full | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra |
| title_fullStr | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra |
| title_full_unstemmed | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra |
| title_short | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss |
| title_sort | spata5 mutations cause a distinct autosomal recessive phenotype of intellectual disability hypotonia and hearing loss |
| url | https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80931 http://d-nb.info/112328475X/34 https://open.fau.de/handle/openfau/8093 |
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