dc.contributor.author | Laupheimer, S. | |
dc.contributor.author | Altunoglu, U. | |
dc.contributor.author | Bonnard, C. | |
dc.contributor.author | Reversade, B. | |
dc.contributor.author | Kayserili, H. | |
dc.date.accessioned | 2021-03-06T10:04:59Z | |
dc.date.available | 2021-03-06T10:04:59Z | |
dc.identifier.citation | Kayserili H., Altunoglu U., Laupheimer S., Bonnard C., Reversade B., "A new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by Carboxypeptidase D mutations", 50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.464 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_e8a81999-38f0-4304-8248-2d9b65d266fe | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/152893 | |
dc.language.iso | eng | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Sitogenetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Temel Bilimler | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | BİYOKİMYA VE MOLEKÜLER BİYOLOJİ | |
dc.title | A new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by Carboxypeptidase D mutations | |
dc.type | Bildiri | |
dc.contributor.department | Afyon Kocatepe Üniversitesi , , | |
dc.identifier.volume | 26 | |
dc.contributor.firstauthorID | 154749 | |