| Author | Sukalo, Maja | dc.contributor.author |
| Author | Schaeflein, Eva | dc.contributor.author |
| Author | Schanze, Ina | dc.contributor.author |
| Author | Everman, David B. | dc.contributor.author |
| Author | Rezaei, Nima | dc.contributor.author |
| Author | Argente, Jesus | dc.contributor.author |
| Author | Lorda-Sanchez, Isabel | dc.contributor.author |
| Author | Deshpande, Charu | dc.contributor.author |
| Author | Takahashi, Tsutomu | dc.contributor.author |
| Author | Kleger, Alexander | dc.contributor.author |
| Author | Zenker, Martin | dc.contributor.author |
| Date of accession | 2018-12-04T13:31:20Z | dc.date.accessioned |
| Available in OPARU since | 2018-12-04T13:31:20Z | dc.date.available |
| Date of first publication | 2017 | dc.date.issued |
| Language | en | dc.language.iso |
| Publisher | Universität Ulm | dc.publisher |
| Keyword | autosomal recessive | dc.subject |
| Keyword | Johanson-Blizzard syndrome | dc.subject |
| Keyword | MLPA | dc.subject |
| Keyword | multiplex ligation-dependent probe amplification | dc.subject |
| Keyword | UBR1 | dc.subject |
| Dewey Decimal Group | DDC 610 / Medicine & health | dc.subject.ddc |
| Title | Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis | dc.title |
| Resource type | Wissenschaftlicher Artikel | dc.type |
| Institution | UKU. Klinik für Innere Medizin I | uulm.affiliationSpecific |
| DCMI Type | Text | uulm.typeDCMI |
| Category | Publikationsnachweise | uulm.category |
| DOI (external) | 10.1002/mgg3.319 | dc.identifier.doiExternal |
| Source - Title of source | Molecular Genetics and Genomic Medicine | source.title |
| Source - Place of publication | Wiley | source.publisher |
| Source - Volume | 5 | source.volume |
| Source - Issue | 6 | source.issue |
| Source - Year | 2017 | source.year |
| Source - From page | 774 | source.fromPage |
| Source - To page | 780 | source.toPage |
| Source - ISSN | 2324-9269 | source.identifier.issn |
| Funding | Fritz Thyssen Stiftung [AZ 10.15.2.040MN] | uulm.funding |
| Open Access | gold | uulm.OA |
| Suitable community | Universitätsklinikum Ulm | uulm.community |
| WoS | 000418581200016 | uulm.identifier.wos |
| University Bibliography | ja | uulm.unibibliographie |
