Publication: Loss-of-function mutations in carboxypeptidase D cause a new syndrome with lymphedema and sensorineural hearing loss
| dc.conference.date | JUN 18-22, 2017 | |
| dc.conference.location | National University of Singapore, Singapore | |
| dc.conference.organizer | 18th International Congress of Developmental Biology | |
| dc.contributor.coauthor | Laupheimer, Simone | |
| dc.contributor.coauthor | Szenker, Emmanuelle | |
| dc.contributor.department | School of Medicine | |
| dc.contributor.facultymember | Yes | |
| dc.contributor.kuauthor | Altunoğlu, Umut | |
| dc.contributor.kuauthor | Kayserili, Hülya | |
| dc.contributor.kuauthor | Reversade, Bruno | |
| dc.contributor.schoolcollegeinstitute | SCHOOL OF MEDICINE | |
| dc.date.accessioned | 2024-11-09T23:27:16Z | |
| dc.date.issued | 2017 | |
| dc.description.fulltext | No | |
| dc.description.harvestedfrom | Manual | |
| dc.description.indexedby | WOS | |
| dc.description.openaccess | NO | |
| dc.description.peerreviewstatus | N/A | |
| dc.description.publisherscope | International | |
| dc.description.readpublish | N/A | |
| dc.description.sponsoredbyTubitakEu | N/A | |
| dc.description.studentonlypublication | No | |
| dc.description.studentpublication | No | |
| dc.description.version | N/A | |
| dc.identifier.WoSQuartile | Q2 | |
| dc.identifier.doi | 10.1016/j.mod.2017.04.033 | |
| dc.identifier.eissn | 1872-6356 | |
| dc.identifier.embargo | N/A | |
| dc.identifier.endpage | S32 | |
| dc.identifier.issn | 0925-4773 | |
| dc.identifier.startpage | S32 | |
| dc.identifier.uri | https://doi.org/10.1016/j.mod.2017.04.033 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14288/11671 | |
| dc.identifier.volume | 145 | |
| dc.identifier.wos | 000402994800108 | |
| dc.keywords | Carboxypeptidase D | |
| dc.keywords | Lymphedema | |
| dc.keywords | Sensorineural hearing loss | |
| dc.language.iso | eng | |
| dc.publisher | Elsevier | |
| dc.relation.affiliation | Koç University | |
| dc.relation.collection | Koç University Institutional Repository | |
| dc.relation.ispartof | Mechanisms of Development | |
| dc.relation.openaccess | N/A | |
| dc.rights | N/A | |
| dc.subject | Developmental biology | |
| dc.title | Loss-of-function mutations in carboxypeptidase D cause a new syndrome with lymphedema and sensorineural hearing loss | |
| dc.type | Meeting Abstract | |
| dspace.entity.type | Publication | |
| local.contributor.kuauthor | Altunoğlu, Umut | |
| local.contributor.kuauthor | Kayserili, Hülya | |
| local.contributor.kuauthor | Reversade, Bruno | |
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