Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing
| dc.contributor.author | Hacihanefioglu, S. | |
| dc.contributor.author | Yapici, Z. | |
| dc.contributor.author | Iseri, S. A. Ugur | |
| dc.contributor.author | Akcakaya, N. H. | |
| dc.contributor.author | Arguden, Y. Tarkan | |
| dc.contributor.author | Salman, B. | |
| dc.contributor.author | Gormez, Z. | |
| dc.contributor.author | Donmez, R. | |
| dc.contributor.author | Colakoglu, B. | |
| dc.contributor.author | Ozbek, U. | |
| dc.date.accessioned | 2021-03-05T21:41:47Z | |
| dc.date.available | 2021-03-05T21:41:47Z | |
| dc.identifier.citation | Akcakaya N. H. , Salman B., Arguden Y. T. , Gormez Z., Donmez R., Colakoglu B., Yapici Z., Hacihanefioglu S., Ozbek U., Iseri S. A. U. , "Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing", 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.535-536 | |
| dc.identifier.other | av_da26f80d-ceb5-4e53-8457-ffc523d91d67 | |
| dc.identifier.other | vv_1032021 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.12627/143824 | |
| dc.language.iso | eng | |
| dc.subject | Moleküler Biyoloji ve Genetik | |
| dc.subject | BİYOKİMYA VE MOLEKÜLER BİYOLOJİ | |
| dc.subject | Yaşam Bilimleri (LIFE) | |
| dc.subject | GENETİK VE HAYAT | |
| 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 | Temel Bilimler | |
| dc.title | Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing | |
| dc.type | Bildiri | |
| dc.contributor.department | İstinye Üniversitesi , , | |
| dc.identifier.volume | 27 | |
| dc.contributor.firstauthorID | 156508 |
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