Last edition Elsevier Up to date and extensively revised to reflect recent 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.
Last Edition
ISBN 13:h9780323597371
Imprint:hElsevier
Language:hEnglish
Authors:hLynn B. Jorde
Pub Date:h12/2019
Pages:h352
Illus:h291 illustrations -255 in full color
Weight:h1,000.000 grams
Size:h219 X 276 mm
Product Type:hHardcover
| List Price |
| grn 2191 |
| $ 71,84 |
| to order |
- • 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.
- • vEnhanced 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.
- Lynn B. Jorde, PhD, Professor, Mark and Kathie Miller Presidential Chair, Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT;
- John C. Carey, MD, MPH, Professor, Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT
- Michael J. Bamshad, MD, Professor, Division of Genetic Medicine, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT
- 1 Background and History, 1
- 2 Basic Ceil Biology: Structure and function of Genes and Chromosomes, 5
- 3 Genetic Variation: its Origin and Detection, 2S
- 4 Autosomal Dominant and Recessive Inheritance, 55
- 5 Sex-Linked and Nontraditional Modes of Inheritance, 73
- 6 Clinical Cytogenetics: The Chromosomal Ba sis of Human Disease. 97
- 7 Biochemical Genetics: Disorders of Metabolism, 126
- 8 Disease-Gene Identification, 146
- 9 Immmunоgenetics 170
- 10 Genetic Вasic оf Development 185
- 11 Cancer Genetics 205
- 12 Multifасtorial Inheritance and Соmmon DISEASES 225
- 13 Genetic Теsting and Gene Therару. 249
- 14 Genetics and Precision Mediciпе, 275
- 15 Сlinical Genetics and Genetic Соunseling. 283
- 16 Glossаrу, 304
- Аnswers tо Study Questions 319
- Index, 329
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