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This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.
This textbook presents the latest information on pharmacogenetics and pharmacogenomics for students, professionals and researchers.
İnsan sağlığını merkezine alan biyomedikal mühendisliği birçok mühendislik ve bilim dalındaki uygulamaları bünyesinde barındırır. Bundan dolayı da disiplinler arası bir mühendislik dalı olarak kabul edilir. Bu alanda eğitim gören bireylerden de başta insan anatomi ve fizyolojisi olmak üzere algılayıcılar, enstrümantasyon, sinyal işleme, biyomalzeme, görüntüleme, biyomekanik, biyoinformatik, optik, sinirbilim, modelleme, klinik mühendislik vb. birçok alanda kendilerini geliştirmeleri ve pek çok durumda da bu alanlardan birinde uzmanlaşmaları beklenir.