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medizinische genetik - Die Inzidenz und Prävalenz von Steinerkrankungen haben in den letzten Jahren deutlich zugenommen. Es ist von entscheidender Bedeutung, möglichst frühzeitig...  相似文献   

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Soon after the introduction of the electrocardiogram (ECG), the high heritabilities of many ECG parameters were recognized. About a decade ago the identification of underlying genetic variants was initiated. With the advent of genome-wide association studies, an adequate method exists to comprehensively identify heart-rhythm-associated genes and gene variants. Their molecular characterization will not only enhance our level of understanding of cardiac electrophysiology but will also offer a future option for improving therapeutic and preventive strategies against arrhythmias and sudden cardiac death.  相似文献   

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Ohne Zusammenfassung(Hierzu Tafel 5).  相似文献   

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In the present article, important challenges in the diagnosis of patients with unexplained arthrogryposis are presented. After explanation of definitions, practical strategies concerning diagnostics and counseling for clinical and molecular geneticists are suggested.  相似文献   

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