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One Test for All: Whole Exome Sequencing Significantly Improves the Diagnostic Yield in Growth Retarded Patients Referred for Molecular Testing for Silver–Russell Syndrome

Meyer Robert,Begemann Matthias,Hübner Christian Thomas,Dey Daniela,Kuechler Alma,Elgizouli Magdeldin,Schara Ulrike,Ambrozaityte Laima,Burnyte Birute,Schröder Carmen,Kenawy Asmaa, Kroisel Peter,Demuth Stephanie,Fekete Gyorgy,Opladen Thomas,Elbracht Miriam,Eggermann Thomas

Orphanet journal of rare diseases（2021）

引用 14|浏览14
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关键词
Silver–Russell syndrome,Next generation sequencing,Diagnostic detection rate,Whole exome sequencing,Targeted multigene panel NGS
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