Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material. - Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. - Offers a completely updated discussion of genetic testing modalities and applications. - Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. - Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. - Illustrates key concepts with disease examples to demonstrate relevance to medicine. - Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
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1 Antecedentes e historia2 Biología celular básica: estructura y función de los genes y los cromosomas3 Variación genética: su origen y detección4 Herencia autosómica dominante y recesiva5 Modos de herencia ligados al sexo y no clásicos6 Citogenética clínica: la base cromosómica de la enfermedad humana7 Genética bioquímica: trastornos del metabolismo8 Identificación de genes causantes de enfermedades9 Inmunogenética10 Bases genéticas del desarrollo11 Genética del cáncer12 Herencia multifactorial y enfermedades comunes13 Pruebas genéticas y terapia génica14 Genética y medicina de precisión15 Genética clínica y asesoramiento genético.
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This report describes a paper design and evaluation, and thus serves two purposes: It describes one particular VLSI sorting circuit, and it also serves as a case study in VLSI design methodology. The algorithm is described, the overall chip organization and data flow are presented, and detailed circuits, layouts, and timing analyses are given.
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