A new face of Borjeson–Forssman–Lehmann syndrome?: De novo mutations in PHF6 in seven females with a distinct phenotype
Gespeichert in:
| Beteiligte Personen: | , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | Englisch |
| Veröffentlicht: |
Erlangen
Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
2013
|
| Links: | https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-81356 http://d-nb.info/1124234128/34 https://open.fau.de/handle/openfau/8135 |
| Beschreibung: | Aus: Journal of Medical Genetics 50.12 (2013): S. 838-847. <http://jmg.bmj.com/content/50/12/838> 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. |
| Umfang: | Online-Ressource |
| Format: | Langzeitarchivierung gewährleistet, LZA |
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| 245 | 1 | 0 | |a A new face of Borjeson–Forssman–Lehmann syndrome? |b De novo mutations in PHF6 in seven females with a distinct phenotype |c Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek |
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| 500 | |a Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich. | ||
| 500 | |a 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. | ||
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| 700 | 1 | |a Brueton, Louise |e Verfasser |4 aut | |
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| 700 | 1 | |a Degenhardt, Franziska |e Verfasser |4 aut | |
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| 700 | 1 | |a Hoyer, Juliane |e Verfasser |4 aut | |
| 700 | 1 | |a Just, Walter |e Verfasser |4 aut | |
| 700 | 1 | |a Rauch, Anita |e Verfasser |4 aut | |
| 700 | 1 | |a Reis, Andre |e Verfasser |4 aut | |
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| 700 | 1 | |a Zeschnigk, Michael |e Verfasser |4 aut | |
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| 700 | 1 | |a Wieczorek, Dagmar |e Verfasser |4 aut | |
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Datensatz im Suchindex
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| author | Zweier, Christiane Kraus, Cornelia Brueton, Louise Cole, Trevor Degenhardt, Franziska Engels, Hartmut Gillessen-Kaesbach, Gabriele Graul-Neumann, Luitgard Horn, Denise Hoyer, Juliane Just, Walter Rauch, Anita Reis, Andre Wollnik, Bernd Zeschnigk, Michael Lüdecke, Hermann-Josef Wieczorek, Dagmar |
| author_facet | Zweier, Christiane Kraus, Cornelia Brueton, Louise Cole, Trevor Degenhardt, Franziska Engels, Hartmut Gillessen-Kaesbach, Gabriele Graul-Neumann, Luitgard Horn, Denise Hoyer, Juliane Just, Walter Rauch, Anita Reis, Andre Wollnik, Bernd Zeschnigk, Michael Lüdecke, Hermann-Josef Wieczorek, Dagmar |
| author_role | aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut |
| author_sort | Zweier, Christiane |
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| spelling | Zweier, Christiane Verfasser aut A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2013 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Aus: Journal of Medical Genetics 50.12 (2013): S. 838-847. <http://jmg.bmj.com/content/50/12/838> 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 Kraus, Cornelia Verfasser aut Brueton, Louise Verfasser aut Cole, Trevor Verfasser aut Degenhardt, Franziska Verfasser aut Engels, Hartmut Verfasser aut Gillessen-Kaesbach, Gabriele Verfasser aut Graul-Neumann, Luitgard Verfasser aut Horn, Denise Verfasser aut Hoyer, Juliane Verfasser aut Just, Walter Verfasser aut Rauch, Anita Verfasser aut Reis, Andre Verfasser aut Wollnik, Bernd Verfasser aut Zeschnigk, Michael Verfasser aut Lüdecke, Hermann-Josef Verfasser aut Wieczorek, Dagmar Verfasser aut https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-81356 Resolving-System kostenfrei Volltext http://d-nb.info/1124234128/34 Langzeitarchivierung Nationalbibliothek kostenfrei Volltext https://open.fau.de/handle/openfau/8135 Verlag kostenfrei Volltext |
| spellingShingle | Zweier, Christiane Kraus, Cornelia Brueton, Louise Cole, Trevor Degenhardt, Franziska Engels, Hartmut Gillessen-Kaesbach, Gabriele Graul-Neumann, Luitgard Horn, Denise Hoyer, Juliane Just, Walter Rauch, Anita Reis, Andre Wollnik, Bernd Zeschnigk, Michael Lüdecke, Hermann-Josef Wieczorek, Dagmar A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype |
| title | A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype |
| title_auth | A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype |
| title_exact_search | A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype |
| title_full | A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek |
| title_fullStr | A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek |
| title_full_unstemmed | A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek |
| title_short | A new face of Borjeson–Forssman–Lehmann syndrome? |
| title_sort | a new face of borjeson forssman lehmann syndrome de novo mutations in phf6 in seven females with a distinct phenotype |
| title_sub | De novo mutations in PHF6 in seven females with a distinct phenotype |
| url | https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-81356 http://d-nb.info/1124234128/34 https://open.fau.de/handle/openfau/8135 |
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