Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
dc.contributor.author | THOENES, M | |
dc.contributor.author | SANLAVILLE, D | |
dc.contributor.author | GIULIANO, F | |
dc.contributor.author | Le, Quan | |
dc.contributor.author | KAYIRANGWA, H | |
dc.contributor.author | NÜRNBERG, P | |
dc.contributor.author | MEITINGER, T | |
dc.contributor.author | BODUROGLU, K | |
dc.contributor.author | ZOLL, B | |
dc.contributor.author | LYONNET, S | |
dc.contributor.author | TZSCHACH, A | |
dc.contributor.author | VERLOES, A | |
dc.contributor.author | Di, Donato | |
dc.contributor.author | TOUITOU, I | |
dc.contributor.author | NETZER, C | |
dc.contributor.author | LI, Y | |
dc.contributor.author | GENEVIÈVE, D | |
dc.contributor.author | WOLLNIK, B | |
dc.contributor.author | YIGIT, Günnur | |
dc.contributor.author | Altunoglu, UMUT | |
dc.contributor.author | BÖGERSHAUSEN, N | |
dc.contributor.author | GATINOIS, V | |
dc.contributor.author | RIEHMER, V | |
dc.contributor.author | KAYSERILI, H | |
dc.contributor.author | BECKER, J | |
dc.contributor.author | STROM, TM | |
dc.contributor.author | FABRE, A | |
dc.contributor.author | BAYNAM, G | |
dc.contributor.author | SANCHEZ, E | |
dc.contributor.author | SIMSEK-KIPER, PÖ | |
dc.contributor.author | BARAT-HOUARI, M | |
dc.contributor.author | ELCIOGLU, NH | |
dc.contributor.author | WIECZOREK, D | |
dc.contributor.author | TINSCHERT, S | |
dc.contributor.author | SARRABAY, G | |
dc.contributor.author | NÜRNBERG, G | |
dc.contributor.author | CAPRI, Y | |
dc.contributor.author | ISIDOR, B | |
dc.contributor.author | LACOMBE, D | |
dc.contributor.author | CORSINI, C | |
dc.contributor.author | CORMIER-DAIRE, V | |
dc.date.accessioned | 2021-03-06T09:05:49Z | |
dc.date.available | 2021-03-06T09:05:49Z | |
dc.identifier.citation | BÖGERSHAUSEN N., GATINOIS V., RIEHMER V., KAYSERILI H., BECKER J., THOENES M., SIMSEK-KIPER P., BARAT-HOUARI M., ELCIOGLU N., WIECZOREK D., et al., "Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.", Human mutation, cilt.37, ss.847-64, 2016 | |
dc.identifier.issn | 1059-7794 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_e411c903-1db0-419e-8766-54fa9d017a77 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/150055 | |
dc.identifier.uri | https://doi.org/10.1002/humu.23026 | |
dc.language.iso | eng | |
dc.title | Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. | |
dc.type | Makale | |
dc.relation.journal | Human mutation | |
dc.contributor.department | , , | |
dc.identifier.volume | 37 | |
dc.identifier.startpage | 847 | |
dc.identifier.endpage | 64 | |
dc.contributor.firstauthorID | 182553 |
Bu öğenin dosyaları:
Dosyalar | Boyut | Biçim | Göster |
---|---|---|---|
Bu öğe ile ilişkili dosya yok. |
Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.
-
Makale [92796]