検索結果 - Solveig Schulz
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Next-generation sequencing in X-linked intellectual disability 著者: Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl‐Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Rieß, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Rieß, Peter Bauer
出版事項 2015Artigo
関連主題
Internal medicine
Medicine
Aorta
Aortic valve
Bicuspid aortic valve
Biology
Cardiology
Cohort
Gene
Genetics
ATRX
Aneurysm
Aortic aneurysm
Aortic dissection
Aortic root
Bicuspid valve
Bioinformatics
DNA sequencing
Exon
Genetic testing
Intellectual disability
Missense mutation
Mutation
Nonsense
Nonsense mutation
Phenotype
Surgery