دانلود کتاب ژنتیک پزشکی
Medical Genetics, 6ed

Medical Genetics is a rapidly progressing field. No textbook can remain factually current for long, so we have attempted to emphasize the central principles of genetics and their clinical application. In particular, this textbook integrates recent developments in molecular genetics and genomics with clinical practice.

Medical Genetics 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 ۲۰۰ additional USMLE-style questions online.

Contents

۱. Background and History
۲. Basic Cell Biology : Structure and Function of Genes and Chromosomes
۳. Genetic Variation : Its Origin and Detection
۴. Autosomal Dominant and Recessive Inheritance
۵. Sex-Linked and Nontraditional Modes of Inheritance
۶. Clinical Cytogenetics : The Chromosomal Basis of Human Disease
۷. Biochemical Genetics : Disorders of Metabolism
۸. Disease-Gene Identification
۹. Immunogenetics
۱۰. Genetic Basis of Development
۱۱. Cancer Genetics
۱۲. Multifactorial Inheritance and Common Diseases
۱۳. Genetic Testing and Gene Therapy
۱۴. Genetics and Precision Medicine
۱۵. Clinical Genetics and Genetic Counseling