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Elsevier

Medical Genetics and Genomics

  • 7 Edición - 2 de abril de 2026
  • Última edición
  • Autores: Lynn B. Jorde, John C. Carey, Michael J. Bamshad
  • Idioma: Inglés

Known for its up-to-date coverage of both basic science and clinical application, Medical Genetics and Genomics, 7th Edition, has been fully revised to reflect recent advances in t… Leer más

Descripción

Known for its up-to-date coverage of both basic science and clinical application, Medical Genetics and Genomics, 7th Edition, has been fully revised to reflect recent advances in the genetics of common diseases, as well as current progress in genetic testing and gene therapy. 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.

Puntos claves

  • Discusses topical issues such as polygenic scores and their potential uses in the diagnosis and treatment of diseases such as diabetes, cancer, and heart disease, along with the latest advancements in sequencing technologies and their role in genetic testing and diagnosis
  • Provides an up-to-date discourse on the modes and applications of genetic testing
  • Contains useful concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment
  • Features a larger quantity of 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
  • Uses examples of diseases to illustrate important concepts, demonstrating their relevance to medicine
  • Study questions for self-assessment are provided within the print book, as well as 200 additional USMLE-style questions online
  • An eBook version is included with purchase. The eBook allows you to access all of the text and figures, with the ability to search, customize your content, make notes and highlights, and have content read aloud

De interès para

Medical students

Índice

1. Background and History

2. Basic Cell Biology: Structure and Function of Genes and Chromosomes

3. Genetic Variation: Its Origin and Detection

4. Autosomal Dominant and Recessive Inheritance

5. Sex-Linked and Nontraditional Modes of Inheritance

6. Clinical Cytogenetics: The Chromosomal Basis of Human Disease

7. Biochemical Genetics: Disorders of Metabolism

8. Disease-Gene Identification

9. Immunogenetics

10. Genetic Basis of Development

11. Cancer Genetics

12. Multifactorial Inheritance and Common Diseases

13. Genetic Testing and Gene Therapy

14. Genetics and Precision Medicine

15. Clinical Genetics and Genetic Counseling

Detalles del producto

  • Edición: 7
  • Última edición
  • Publicado: 13 de julio de 2026
  • Idioma: Inglés

Sobre los autores

LJ

Lynn B. Jorde

Afiliaciones y experiencia
Professor, Mark and Kathie Miller Presidential Chair, Department of Human Genetics,University of Utah Health Sciences Center, Salt Lake City, UT, USA

JC

John C. Carey

Afiliaciones y experiencia
Professor, Division of Medical Genetics, Department of Pediatrics,University of Utah Health Sciences Center, Salt Lake City, UT, USA

MB

Michael J. Bamshad

Afiliaciones y experiencia
Professor, Division of Genetic Medicine, Department of Pediatrics,University of Utah Health Sciences Center, Salt Lake City, UT, USA