| Author | Meester, Josephina A. N. | dc.contributor.author |
| Author | Sukalo, Maja | dc.contributor.author |
| Author | Schroeder, Kim C. | dc.contributor.author |
| Author | Schanze, Denny | dc.contributor.author |
| Author | Baynam, Gareth | dc.contributor.author |
| Author | Borck, Guntram | dc.contributor.author |
| Author | Bramswig, Nuria C. | dc.contributor.author |
| Author | Duman, Duygu | dc.contributor.author |
| Author | Gilbert-Dussardier, Brigitte | dc.contributor.author |
| Author | Holder-Espinasse, Muriel | dc.contributor.author |
| Author | Itin, Peter | dc.contributor.author |
| Author | Johnson, Diana S. | dc.contributor.author |
| Author | Joss, Shelagh | dc.contributor.author |
| Author | Koillinen, Hannele | dc.contributor.author |
| Author | McKenzie, Fiona | dc.contributor.author |
| Author | Morton, Jenny | dc.contributor.author |
| Author | Nelle, Heike | dc.contributor.author |
| Author | Reardon, Willie | dc.contributor.author |
| Author | Roll, Claudia | dc.contributor.author |
| Author | Salih, Mustafa A. | dc.contributor.author |
| Author | Savarirayan, Ravi | dc.contributor.author |
| Author | Scurr, Ingrid | dc.contributor.author |
| Author | Splitt, Miranda | dc.contributor.author |
| Author | Thompson, Elizabeth | dc.contributor.author |
| Author | Titheradge, Hannah | dc.contributor.author |
| Author | Travers, Colm P. | dc.contributor.author |
| Author | Van Maldergem, Lionel | dc.contributor.author |
| Author | Whiteford, Margo | dc.contributor.author |
| Author | Wieczorek, Dagmar | dc.contributor.author |
| Author | Vandeweyer, Geert | dc.contributor.author |
| Author | Trembath, Richard | dc.contributor.author |
| Author | Van Laer, Lut | dc.contributor.author |
| Author | Loeys, Bart L. | dc.contributor.author |
| Author | Zenker, Martin | dc.contributor.author |
| Author | Southgate, Laura | dc.contributor.author |
| Author | Wuyts, Wim | dc.contributor.author |
| Date of accession | 2019-05-07T09:19:29Z | dc.date.accessioned |
| Available in OPARU since | 2019-05-07T09:19:29Z | dc.date.available |
| Date of first publication | 2018 | dc.date.issued |
| Language | en | dc.language.iso |
| Publisher | Universität Ulm | dc.publisher |
| Keyword | Adams-Oliver syndrome | dc.subject |
| Keyword | genetics | dc.subject |
| Keyword | mutation screening | dc.subject |
| Keyword | Notch signaling | dc.subject |
| Keyword | Rho GTPase | dc.subject |
| Keyword | aplasia-cutis-congenita | dc.subject |
| Keyword | of-function mutations | dc.subject |
| Keyword | clinical phenotypes | dc.subject |
| Keyword | missense mutations | dc.subject |
| Keyword | limb defects | dc.subject |
| Keyword | notch1 | dc.subject |
| Keyword | anomalies | dc.subject |
| Keyword | variants | dc.subject |
| Keyword | domains | dc.subject |
| Keyword | association | dc.subject |
| Dewey Decimal Group | DDC 570 / Life sciences | dc.subject.ddc |
| Dewey Decimal Group | DDC 610 / Medicine & health | dc.subject.ddc |
| Title | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort | dc.title |
| Resource type | Wissenschaftlicher Artikel | dc.type |
| Institution | UKU. Institut für Humangenetik | uulm.affiliationSpecific |
| DCMI Type | Text | uulm.typeDCMI |
| Category | Publikationsnachweise | uulm.category |
| DOI (external) | 10.1002/humu.23567 | dc.identifier.doiExternal |
| Source - Title of source | Human Mutation | source.title |
| Source - Place of publication | Wiley | source.publisher |
| Source - Volume | 39 | source.volume |
| Source - Issue | 9 | source.issue |
| Source - Year | 2018 | source.year |
| Source - From page | 1246 | source.fromPage |
| Source - To page | 1261 | source.toPage |
| Source - ISSN | 1059-7794 | source.identifier.issn |
| Source - eISSN | 1098-1004 | source.identifier.eissn |
| Open Access | Green Published | uulm.OA |
| Suitable community | Universitätsklinikum Ulm | uulm.community |
| WoS | 000443229000009 | uulm.identifier.wos |
| University Bibliography | ja | uulm.unibibliographie |
