The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy:
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Erlangen
Friedrich-Alexander-Universität Erlangen-Nürnberg
2019
|
| Schlagworte: | |
| Online-Zugang: | Volltext Volltext Volltext |
| Beschreibung: | 1 Online-Ressource |
Internformat
MARC
| LEADER | 00000nmm a2200000zc 4500 | ||
|---|---|---|---|
| 001 | BV045560943 | ||
| 003 | DE-604 | ||
| 005 | 20190730 | ||
| 007 | cr|uuu---uuuuu | ||
| 008 | 190416s2019 gw |||| o||u| ||||||eng d | ||
| 015 | |a 19,O04 |2 dnb | ||
| 016 | 7 | |a 1181428947 |2 DE-101 | |
| 024 | 7 | |a urn:nbn:de:bvb:29-opus4-107110 |2 urn | |
| 035 | |a (OCoLC)1111900312 | ||
| 035 | |a (DE-599)DNB1181428947 | ||
| 040 | |a DE-604 |b ger |e rda | ||
| 041 | 0 | |a eng | |
| 044 | |a gw |c XA-DE-BY | ||
| 049 | |a DE-29 | ||
| 084 | |a 610 |2 sdnb | ||
| 100 | 1 | |a Hebebrand, Moritz |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy |c Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp |
| 264 | 1 | |a Erlangen |b Friedrich-Alexander-Universität Erlangen-Nürnberg |c 2019 | |
| 300 | |a 1 Online-Ressource | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b c |2 rdamedia | ||
| 338 | |b cr |2 rdacarrier | ||
| 583 | 1 | |a Archivierung/Langzeitarchivierung gewährleistet |5 DE-101 |2 pdager | |
| 653 | |a TUBA1A | ||
| 653 | |a Tubulin | ||
| 653 | |a Tubulinopathy | ||
| 653 | |a Lissencephaly | ||
| 653 | |a Brain malformation | ||
| 653 | |a Microcephaly | ||
| 653 | |a Developmental delay | ||
| 653 | |a Human phenotype ontology | ||
| 700 | 1 | |a Hüffmeier, Ulrike |e Verfasser |4 aut | |
| 700 | 1 | |a Trollmann, Regina |e Verfasser |4 aut | |
| 700 | 1 | |a Hehr, Ute |e Verfasser |4 aut | |
| 700 | 1 | |a Uebe, Steffen |e Verfasser |4 aut | |
| 700 | 1 | |a Ekici, Arif B. |e Verfasser |4 aut | |
| 700 | 1 | |a Kraus, Cornelia |e Verfasser |4 aut | |
| 700 | 1 | |a Krumbiegel, Mandy |e Verfasser |4 aut | |
| 700 | 1 | |a Reis, André |e Verfasser |4 aut | |
| 700 | 1 | |a Thiel, Christian T. |e Verfasser |4 aut | |
| 700 | 1 | |a Popp, Bernt |e Verfasser |4 aut | |
| 787 | 0 | 8 | |i Sonderdruck aus |t Orphanet Journal of Rare Diseases |g Vol. 14 (2019) |o 10.1186/s13023-019-1020-x |
| 856 | 4 | 0 | |u https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-107110 |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u http://d-nb.info/1181428947/34 |x Langzeitarchivierung Nationalbibliothek |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://open.fau.de/handle/openfau/10711 |x Verlag |z kostenfrei |3 Volltext |
| 912 | |a ebook | ||
| 999 | |a oai:aleph.bib-bvb.de:BVB01-030944724 | ||
Datensatz im Suchindex
| _version_ | 1804179543638933504 |
|---|---|
| any_adam_object | |
| author | Hebebrand, Moritz Hüffmeier, Ulrike Trollmann, Regina Hehr, Ute Uebe, Steffen Ekici, Arif B. Kraus, Cornelia Krumbiegel, Mandy Reis, André Thiel, Christian T. Popp, Bernt |
| author_facet | Hebebrand, Moritz Hüffmeier, Ulrike Trollmann, Regina Hehr, Ute Uebe, Steffen Ekici, Arif B. Kraus, Cornelia Krumbiegel, Mandy Reis, André Thiel, Christian T. Popp, Bernt |
| author_role | aut aut aut aut aut aut aut aut aut aut aut |
| author_sort | Hebebrand, Moritz |
| author_variant | m h mh u h uh r t rt u h uh s u su a b e ab abe c k ck m k mk a r ar c t t ct ctt b p bp |
| building | Verbundindex |
| bvnumber | BV045560943 |
| collection | ebook |
| ctrlnum | (OCoLC)1111900312 (DE-599)DNB1181428947 |
| discipline | Medizin |
| format | Electronic eBook |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02321nmm a2200589zc 4500</leader><controlfield tag="001">BV045560943</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20190730 </controlfield><controlfield tag="007">cr|uuu---uuuuu</controlfield><controlfield tag="008">190416s2019 gw |||| o||u| ||||||eng d</controlfield><datafield tag="015" ind1=" " ind2=" "><subfield code="a">19,O04</subfield><subfield code="2">dnb</subfield></datafield><datafield tag="016" ind1="7" ind2=" "><subfield code="a">1181428947</subfield><subfield code="2">DE-101</subfield></datafield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">urn:nbn:de:bvb:29-opus4-107110</subfield><subfield code="2">urn</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1111900312</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DNB1181428947</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="084" ind1=" " ind2=" "><subfield code="a">610</subfield><subfield code="2">sdnb</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Hebebrand, Moritz</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy</subfield><subfield code="c">Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Erlangen</subfield><subfield code="b">Friedrich-Alexander-Universität Erlangen-Nürnberg</subfield><subfield code="c">2019</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">1 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="583" ind1="1" ind2=" "><subfield code="a">Archivierung/Langzeitarchivierung gewährleistet</subfield><subfield code="5">DE-101</subfield><subfield code="2">pdager</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">TUBA1A</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Tubulin</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Tubulinopathy</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Lissencephaly</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Brain malformation</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Microcephaly</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Developmental delay</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Human phenotype ontology</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hüffmeier, Ulrike</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Trollmann, Regina</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hehr, Ute</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Uebe, Steffen</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Ekici, Arif B.</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</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">Krumbiegel, Mandy</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Reis, André</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Thiel, Christian T.</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Popp, Bernt</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="787" ind1="0" ind2="8"><subfield code="i">Sonderdruck aus</subfield><subfield code="t">Orphanet Journal of Rare Diseases</subfield><subfield code="g">Vol. 14 (2019)</subfield><subfield code="o">10.1186/s13023-019-1020-x</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-107110</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/1181428947/34</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/10711</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:BVB01-030944724</subfield></datafield></record></collection> |
| id | DE-604.BV045560943 |
| illustrated | Not Illustrated |
| indexdate | 2024-07-10T08:21:32Z |
| institution | BVB |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-030944724 |
| oclc_num | 1111900312 |
| open_access_boolean | 1 |
| owner | DE-29 |
| owner_facet | DE-29 |
| physical | 1 Online-Ressource |
| psigel | ebook |
| publishDate | 2019 |
| publishDateSearch | 2019 |
| publishDateSort | 2019 |
| publisher | Friedrich-Alexander-Universität Erlangen-Nürnberg |
| record_format | marc |
| spelling | Hebebrand, Moritz Verfasser aut The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg 2019 1 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Archivierung/Langzeitarchivierung gewährleistet DE-101 pdager TUBA1A Tubulin Tubulinopathy Lissencephaly Brain malformation Microcephaly Developmental delay Human phenotype ontology Hüffmeier, Ulrike Verfasser aut Trollmann, Regina Verfasser aut Hehr, Ute Verfasser aut Uebe, Steffen Verfasser aut Ekici, Arif B. Verfasser aut Kraus, Cornelia Verfasser aut Krumbiegel, Mandy Verfasser aut Reis, André Verfasser aut Thiel, Christian T. Verfasser aut Popp, Bernt Verfasser aut Sonderdruck aus Orphanet Journal of Rare Diseases Vol. 14 (2019) 10.1186/s13023-019-1020-x https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-107110 Resolving-System kostenfrei Volltext http://d-nb.info/1181428947/34 Langzeitarchivierung Nationalbibliothek kostenfrei Volltext https://open.fau.de/handle/openfau/10711 Verlag kostenfrei Volltext |
| spellingShingle | Hebebrand, Moritz Hüffmeier, Ulrike Trollmann, Regina Hehr, Ute Uebe, Steffen Ekici, Arif B. Kraus, Cornelia Krumbiegel, Mandy Reis, André Thiel, Christian T. Popp, Bernt The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy |
| title | The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy |
| title_auth | The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy |
| title_exact_search | The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy |
| title_full | The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp |
| title_fullStr | The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp |
| title_full_unstemmed | The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp |
| title_short | The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy |
| title_sort | the mutational and phenotypic spectrum of tuba1a associated tubulinopathy |
| url | https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-107110 http://d-nb.info/1181428947/34 https://open.fau.de/handle/openfau/10711 |
| work_keys_str_mv | AT hebebrandmoritz themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT huffmeierulrike themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT trollmannregina themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT hehrute themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT uebesteffen themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT ekiciarifb themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT krauscornelia themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT krumbiegelmandy themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT reisandre themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT thielchristiant themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy AT poppbernt themutationalandphenotypicspectrumoftuba1aassociatedtubulinopathy |