Results of next generation sequencing gene panel diagnostics including copy number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Overwater, Eline; Marsili, Luisa; Baars, Marieke J.H.; Baas, Annette F.; van de Beek, Irma; Dulfer, Eelco; van Hagen, Johanna M.; Hilhorst-Hofstee, Yvonne; Kempers, Marlies; Krapels, Ingrid P.; Menke, Leonie A.; Verhagen, Judith M.A.; Yeung, Kak K.; Zwijnenburg, Petra J.G.; Groenink, Maarten; van Rijn, Peter; Weiss, Marjan M.; Voorhoeve, Els; van Tintelen, J. Peter; Houweling, Arjan C.; Maugeri, Alessandra

期刊名称Human Mutation
作者Overwater, Eline; Marsili, Luisa; Baars, Marieke J.H.; Baas, Annette F.; van de Beek, Irma; Dulfer, Eelco; van Hagen, Johanna M.; Hilhorst-Hofstee, Yvonne; Kempers, Marlies; Krapels, Ingrid P.; Menke, Leonie A.; Verhagen, Judith M.A.; Yeung, Kak K.; Zwijnenburg, Petra J.G.; Groenink, Maarten; van Rijn, Peter; Weiss, Marjan M.; Voorhoeve, Els; van Tintelen, J. Peter; Houweling, Arjan C.; Maugeri, Alessandra
印刷ISSN1059-7794
文件大小1800.23KB
发表时间2018-06-16
DOI10.1002/humu.23565

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Results of next generation sequencing gene panel diagnostics including copy number variation analysis in 810 patients suspected of heritable thoracic aortic disorders