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المؤلفون: Najim Lahrouchi, Christian van der Werf, Rafik Tadros, Jonathan R. Skinner, Della Cole, Bo Gregers Winkel, Michael Papadakis, Stuart A. Cook, Jacob Tfelt-Hansen, Marta C. Cohen, James S. Ware, M. Tome-Esteban, Jaydutt D. Bhalshankar, Stathis Papatheodorou, Elisabeth M. Lodder, Sanjay Sharma, Hariharan Raju, Risha Govind, Greg Mellor, Mary N. Sheppard, Donald R. Love, Connie R. Bezzina, Yanushi D. Wijeyeratne, Chee Jian Pua, Janice A. Till, Bee Y. Soh, Arthur A.M. Wilde, Elijah R. Behr, Chris Miles, Jackie Crawford
المساهمون: Cardiology, Graduate School, ACS - Heart failure & arrhythmias, Human Genetics
المصدر: Eur J Hum Genet
European journal of human genetics, 28(1), 17-22. Nature Publishing Groupمصطلحات موضوعية: Adult, Forensic Genetics, Male, medicine.medical_specialty, Biochemistry & Molecular Biology, Cardiomyopathy, Autopsy, GUIDELINES, Sudden death, Sensitivity and Specificity, Article, Sudden cardiac death, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Uncertain significance, Genetics (clinical), Likely pathogenic, Genetic testing, Genetics & Heredity, 0604 Genetics, Science & Technology, medicine.diagnostic_test, business.industry, ASSOCIATION, medicine.disease, Death, Sudden, Cardiac, CARDIAC DEATH, Medical genetics, Female, business, Cardiomyopathies, Life Sciences & Biomedicine
وصف الملف: application/pdf
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المؤلفون: Rachel Buchan, Jaydutt D. Bhalshankar, Patrick Tan, Stuart A. Cook, Chee Jian Pua, Nicola Whiffin, Jing Quan Lim, Shibu John, Paul J.R. Barton, Kingsley Chow, James S. Ware, Pei Min Lio, Jaclyn Lim, Bee Y. Soh, Roddy Walsh, Kui Miao, Shi Qi Lim, Sebastian Schafer
المساهمون: British Heart Foundation, Wellcome Trust, Department of Health
المصدر: Journal of Cardiovascular Translational Research
مصطلحات موضوعية: 0301 basic medicine, CLINICAL DIAGNOSTICS, Heredity, Cardiac & Cardiovascular Systems, FEATURES, DNA Mutational Analysis, Pharmaceutical Science, EXOME, Disease, Research & Experimental Medicine, VARIANTS, Genome, Workflow, Databases, Genetic, London, Genetics(clinical), Exome, Diagnostics, MUTATION, Genetics (clinical), Exome sequencing, Sanger sequencing, Genetics, Singapore, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Phenotype, Medicine, Research & Experimental, symbols, Targeted sequencing, Medical genetics, Molecular Medicine, Original Article, Allelic heterogeneity, SENSITIVITY, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Genetic Markers, medicine.medical_specialty, Heart Diseases, Biology, Polymorphism, Single Nucleotide, symbols.namesake, 03 medical and health sciences, Predictive Value of Tests, medicine, Humans, Genetic Predisposition to Disease, CUSTOM AMPLISEQ, Indel, Gene, Genetic testing, Whole genome sequencing, Phenocopy, Science & Technology, Genetic heterogeneity, Whole exome sequencing, Computational Biology, Cloud Computing, DILATED CARDIOMYOPATHY, FRAMEWORK, Human genetics, 030104 developmental biology, Genetic marker, ARRHYTHMIA SYNDROMES, Cardiovascular System & Cardiology, Inherited cardiac conditions
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c0a8da1e5e0da104574bfaa3760338
http://hdl.handle.net/10044/1/31722
Find this article in full text from Springer Verlag.