Titlebook: Clinical Cardiogenetics; Hubert F. Baars,Pieter A. F. M. Doevendans,J. Pete Textbook 2020Latest edition Springer Nature Switzerland AG 202

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https://doi.org/10.1007/978-3-030-45457-9Hypertrophic cardiomyopathy; Short QT-syndrome; Brugada syndrome; Sudden cardiac death; Congenital heart

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Introduction to Molecular Geneticsenes in Families and Populations” section. Although NGS is becoming the most widely used technique to identify mutations, still several other techniques are being applied, and in the “Molecular Genetic Techniques” section, an overview of all currently used methods is provided. With the use of the af

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Left Ventricular Noncompactione most prevalent disease gene. The nonisolated forms of LVNC are caused by a range of rare genetic defects. Until now, in half of familial isolated LVNC, the genetic defect remains unknown. Genetic defects in a large number of sarcomere and other cardiomyopathy genes and in genes primarily associate

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Metabolic Cardiomyopathyseases..Most IEM are inherited as autosomal recessive traits, however, some highly prevalent diseases with cardiac involvement are X-linked (Anderson Fabry disease, Hunter syndrome—type II mucopolysaccharidosis, Danon disease)..Cardiomyopathies caused by IEM are phenotypically heterogeneous, most of

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Cardiac Amyloidosisfailure (often with preserved ejection fraction in its earliest stage), and electrical conduction delay. Recent development of novel therapies to stabilize the protein complexes or diminish the production of pathological proteins has enormous potential to improve outcomes for people with cardiac amy