A new face of Borjeson–Forssman–Lehmann syndrome?: De novo mutations in PHF6 in seven females with a distinct phenotype
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Erlangen
Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
2013
|
| Online-Zugang: | Volltext Volltext Volltext |
| 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. |
| Beschreibung: | Online-Ressource |
| Format: | Langzeitarchivierung gewährleistet, LZA |
Internformat
MARC
| LEADER | 00000nmm a2200000zc 4500 | ||
|---|---|---|---|
| 001 | BV044248966 | ||
| 003 | DE-604 | ||
| 005 | 00000000000000.0 | ||
| 007 | cr|uuu---uuuuu | ||
| 008 | 170330s2013 gw |||| o||u| ||||||eng d | ||
| 015 | |a 17,O02 |2 dnb | ||
| 016 | 7 | |a 1124234128 |2 DE-101 | |
| 024 | 7 | |a urn:nbn:de:bvb:29-opus4-81356 |2 urn | |
| 035 | |a (OCoLC)1031436367 | ||
| 035 | |a (DE-599)DNB1124234128 | ||
| 040 | |a DE-604 |b ger |e rda | ||
| 041 | 0 | |a eng | |
| 044 | |a gw |c XA-DE-BY | ||
| 049 | |a DE-29 | ||
| 082 | 0 | |a 610 |2 23 | |
| 084 | |a 610 |2 sdnb | ||
| 100 | 1 | |a Zweier, Christiane |e Verfasser |4 aut | |
| 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 |
| 264 | 1 | |a Erlangen |b Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) |c 2013 | |
| 300 | |a Online-Ressource | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b c |2 rdamedia | ||
| 338 | |b cr |2 rdacarrier | ||
| 500 | |a Aus: Journal of Medical Genetics 50.12 (2013): S. 838-847. <http://jmg.bmj.com/content/50/12/838> | ||
| 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. | ||
| 538 | |a Langzeitarchivierung gewährleistet, LZA | ||
| 700 | 1 | |a Kraus, Cornelia |e Verfasser |4 aut | |
| 700 | 1 | |a Brueton, Louise |e Verfasser |4 aut | |
| 700 | 1 | |a Cole, Trevor |e Verfasser |4 aut | |
| 700 | 1 | |a Degenhardt, Franziska |e Verfasser |4 aut | |
| 700 | 1 | |a Engels, Hartmut |e Verfasser |4 aut | |
| 700 | 1 | |a Gillessen-Kaesbach, Gabriele |e Verfasser |4 aut | |
| 700 | 1 | |a Graul-Neumann, Luitgard |e Verfasser |4 aut | |
| 700 | 1 | |a Horn, Denise |e Verfasser |4 aut | |
| 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 | |
| 700 | 1 | |a Wollnik, Bernd |e Verfasser |4 aut | |
| 700 | 1 | |a Zeschnigk, Michael |e Verfasser |4 aut | |
| 700 | 1 | |a Lüdecke, Hermann-Josef |e Verfasser |4 aut | |
| 700 | 1 | |a Wieczorek, Dagmar |e Verfasser |4 aut | |
| 856 | 4 | 0 | |u https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-81356 |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u http://d-nb.info/1124234128/34 |x Langzeitarchivierung Nationalbibliothek |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://open.fau.de/handle/openfau/8135 |x Verlag |z kostenfrei |3 Volltext |
| 912 | |a ebook | ||
| 999 | |a oai:aleph.bib-bvb.de:BVB01-029654089 | ||
Datensatz im Suchindex
| _version_ | 1804177415668236288 |
|---|---|
| any_adam_object | |
| 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 |
| author_variant | c z cz c k ck l b lb t c tc f d fd h e he g g k ggk l g n lgn d h dh j h jh w j wj a r ar a r ar b w bw m z mz h j l hjl d w dw |
| building | Verbundindex |
| bvnumber | BV044248966 |
| collection | ebook |
| ctrlnum | (OCoLC)1031436367 (DE-599)DNB1124234128 |
| dewey-full | 610 |
| 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 |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02920nmm a2200601zc 4500</leader><controlfield tag="001">BV044248966</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">00000000000000.0</controlfield><controlfield tag="007">cr|uuu---uuuuu</controlfield><controlfield tag="008">170330s2013 gw |||| o||u| ||||||eng d</controlfield><datafield tag="015" ind1=" " ind2=" "><subfield code="a">17,O02</subfield><subfield code="2">dnb</subfield></datafield><datafield tag="016" ind1="7" ind2=" "><subfield code="a">1124234128</subfield><subfield code="2">DE-101</subfield></datafield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">urn:nbn:de:bvb:29-opus4-81356</subfield><subfield code="2">urn</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1031436367</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DNB1124234128</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="044" ind1=" " ind2=" "><subfield code="a">gw</subfield><subfield code="c">XA-DE-BY</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-29</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">610</subfield><subfield code="2">23</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">610</subfield><subfield code="2">sdnb</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Zweier, Christiane</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">A new face of Borjeson–Forssman–Lehmann syndrome?</subfield><subfield code="b">De novo mutations in PHF6 in seven females with a distinct phenotype</subfield><subfield code="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</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Erlangen</subfield><subfield code="b">Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)</subfield><subfield code="c">2013</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Aus: Journal of Medical Genetics 50.12 (2013): S. 838-847. <http://jmg.bmj.com/content/50/12/838></subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="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.</subfield></datafield><datafield tag="538" ind1=" " ind2=" "><subfield code="a">Langzeitarchivierung gewährleistet, LZA</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kraus, Cornelia</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Brueton, Louise</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Cole, Trevor</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Degenhardt, Franziska</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Engels, Hartmut</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Gillessen-Kaesbach, Gabriele</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Graul-Neumann, Luitgard</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Horn, Denise</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hoyer, Juliane</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Just, Walter</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Rauch, Anita</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Reis, Andre</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wollnik, Bernd</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zeschnigk, Michael</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lüdecke, Hermann-Josef</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wieczorek, Dagmar</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-81356</subfield><subfield code="x">Resolving-System</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://d-nb.info/1124234128/34</subfield><subfield code="x">Langzeitarchivierung Nationalbibliothek</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://open.fau.de/handle/openfau/8135</subfield><subfield code="x">Verlag</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ebook</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-029654089</subfield></datafield></record></collection> |
| id | DE-604.BV044248966 |
| illustrated | Not Illustrated |
| indexdate | 2024-07-10T07:47:43Z |
| institution | BVB |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-029654089 |
| oclc_num | 1031436367 |
| open_access_boolean | 1 |
| owner | DE-29 |
| owner_facet | DE-29 |
| physical | Online-Ressource |
| psigel | ebook |
| publishDate | 2013 |
| publishDateSearch | 2013 |
| publishDateSort | 2013 |
| publisher | Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) |
| record_format | marc |
| 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 |
| work_keys_str_mv | AT zweierchristiane anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT krauscornelia anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT bruetonlouise anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT coletrevor anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT degenhardtfranziska anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT engelshartmut anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT gillessenkaesbachgabriele anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT graulneumannluitgard anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT horndenise anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT hoyerjuliane anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT justwalter anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT rauchanita anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT reisandre anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT wollnikbernd anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT zeschnigkmichael anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT ludeckehermannjosef anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype AT wieczorekdagmar anewfaceofborjesonforssmanlehmannsyndromedenovomutationsinphf6insevenfemaleswithadistinctphenotype |