dc.contributor.author | DDD study | |
dc.contributor.author | Gannon, Tamsin | |
dc.contributor.author | Perveen, Rahat | |
dc.contributor.author | Schlecht, Hélene | |
dc.contributor.author | Ramsden, Simon | |
dc.contributor.author | Anderson, Beverley | |
dc.contributor.author | Kerr, Bronwyn | |
dc.contributor.author | Day, Ruth | |
dc.contributor.author | Banka, Siddharth | |
dc.contributor.author | Suri, Mohnish | |
dc.contributor.author | Berland, Siren | |
dc.contributor.author | Gabbett, Michael | |
dc.contributor.author | Ma, Alan | |
dc.contributor.author | Lyonnet, Stan | |
dc.contributor.author | Cormier-Daire, Valerie | |
dc.contributor.author | Yilmaz, Rüstem | |
dc.contributor.author | Borck, Guntram | |
dc.contributor.author | Wieczorek, Dagmar | |
dc.contributor.author | Anderlid, Britt-Marie | |
dc.contributor.author | Smithson, Sarah | |
dc.contributor.author | Vogt, Julie | |
dc.contributor.author | Moore-Barton, Heather | |
dc.contributor.author | Simsek-Kiper, Pelin Ozlem | |
dc.contributor.author | Maystadt, Isabelle | |
dc.contributor.author | Destrée, Anne | |
dc.contributor.author | Bucher, Jessica | |
dc.contributor.author | Angle, Brad | |
dc.contributor.author | Mohammed, Shehla | |
dc.contributor.author | Wakeling, Emma | |
dc.contributor.author | Price, Sue | |
dc.contributor.author | Singer, Amihood | |
dc.contributor.author | Sznajer, Yves | |
dc.contributor.author | Toutain, Annick | |
dc.contributor.author | Haye, Damien | |
dc.contributor.author | Newbury-Ecob, Ruth | |
dc.contributor.author | Fradin, Melanie | |
dc.contributor.author | McGaughran, Julie | |
dc.contributor.author | Tuysuz, Beyhan | |
dc.contributor.author | Tein, Mark | |
dc.contributor.author | Bouman, Katelijne | |
dc.contributor.author | Dabir, Tabib | |
dc.contributor.author | Van den Ende, Jenneke | |
dc.contributor.author | Luk, Ho Ming | |
dc.contributor.author | Pilz, Daniela T | |
dc.contributor.author | Eason, Jacqueline | |
dc.contributor.author | Davies, Sally | |
dc.contributor.author | Reardon, Willie | |
dc.contributor.author | Garavelli, Livia | |
dc.contributor.author | Zuffardi, Orsetta | |
dc.contributor.author | Devriendt, Koen | |
dc.contributor.author | Armstrong, Ruth | |
dc.contributor.author | Johnson, Diana | |
dc.contributor.author | Doco-Fenzy, Martine | |
dc.contributor.author | Bijlsma, Emilia | |
dc.contributor.author | Unger, Sheila | |
dc.contributor.author | Veenstra-Knol, Hermine E | |
dc.contributor.author | Kohlhase, Jürgen | |
dc.contributor.author | Lo, Ivan FM | |
dc.contributor.author | Smith, Janine | |
dc.contributor.author | Clayton-Smith, Jill | |
dc.date.accessioned | 2019-12-10T10:37:36Z | |
dc.date.available | 2019-12-10T10:37:36Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 1018-4813, 1476-5438 | |
dc.identifier.uri | https://doi.org/10.1038/ejhg.2014.248 | |
dc.identifier.uri | http://www.nature.com/articles/ejhg2014248 | |
dc.identifier.uri | http://hdl.handle.net/11655/14014 | |
dc.language.iso | en | |
dc.relation.isversionof | 10.1038/ejhg.2014.248 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | Further Delineation Of The Kat6B Molecular And Phenotypic Spectrum | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | European Journal of Human Genetics | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 23 | |
dc.identifier.issue | 9 | |
dc.identifier.startpage | 1165 | |
dc.identifier.endpage | 1170 | |
dc.description.index | PubMed | |
dc.description.index | WoS | |
dc.description.index | Scopus | |