Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum:
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Erlangen
Friedrich-Alexander-Universität Erlangen-Nürnberg
2016
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| Online-Zugang: | Volltext Volltext Volltext |
| Beschreibung: | Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich. This publication is with permission of the rights owner freely accessible due to an Alliance licence or a national licence (funded by the DFG, German Research Foundation) respectively. |
| Beschreibung: | 1 Online-Ressource |
| Format: | Langzeitarchivierung gewährleistet, LZA |
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| 245 | 1 | 0 | |a Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum |c Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier |
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| author | Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile Palmer, Elizabeth E. Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane |
| author_facet | Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile Palmer, Elizabeth E. Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane |
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| author_sort | Smogavec, Mateja |
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| spelling | Smogavec, Mateja Verfasser aut Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg 2016 1 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich. This publication is with permission of the rights owner freely accessible due to an Alliance licence or a national licence (funded by the DFG, German Research Foundation) respectively. Langzeitarchivierung gewährleistet, LZA Cleall, Alison Verfasser aut Hoyer, Juliane Verfasser aut Lederer, Damien Verfasser aut Nassogne, Marie-Cécile Verfasser aut Palmer, Elizabeth E. Verfasser aut Deprez, Marie Verfasser aut Benoit, Valérie Verfasser aut Maystadt, Isabelle Verfasser aut Noakes, Charlotte Verfasser aut Leal, Alejandro Verfasser aut Shaw, Marie Verfasser aut Gecz, Jozef Verfasser aut Raymond, Lucy Verfasser aut Reis, André Verfasser aut Shears, Deborah Verfasser aut Brockmann, Knut Verfasser aut Zweier, Christiane Verfasser aut Sonderdruck aus Journal of Medical Genetics Vol. 53 (2016), Seite 820 - 827 10.1136/jmedgenet-2016-103880 http://d-nb.info/1162698896/34 Langzeitarchivierung Nationalbibliothek kostenfrei Volltext https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-97972 Resolving-System kostenfrei Volltext https://open.fau.de/handle/openfau/9797 Verlag kostenfrei Volltext |
| spellingShingle | Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile Palmer, Elizabeth E. Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum |
| title | Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum |
| title_auth | Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum |
| title_exact_search | Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum |
| title_full | Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier |
| title_fullStr | Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier |
| title_full_unstemmed | Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier |
| title_short | Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum |
| title_sort | eight further individuals with intellectual disability and epilepsy carrying bi allelic cntnap2 aberrations allow delineation of the mutational and phenotypic spectrum |
| url | http://d-nb.info/1162698896/34 https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-97972 https://open.fau.de/handle/openfau/9797 |
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