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Thompson & Thompson Genetics and Genomics in Medicine, 9th Edition
Cohn, Scherer & Hamosh
Editore
Elsevier
Anno
2023
Pagine
580
ISBN
9780323547628
59,00 €

DA SCONTARE

I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.
Features:

 

  • Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses
  • Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies
  • Full-color text, illustrations, updated line diagrams, and clinical photos
  • End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations
  • USMLE-style and multiple choice questions available as part of the eBook
  • An enhanced eBook version is included with purchase. The eBook allows you to access all the text, figures and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud
New To This Edition:

 

 

  • Updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure
  • New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions
  • New chapter on Epigenetics
  • Clearer and more precise terminology, in response to contemporary and evolving guidelines
  • New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management.

Sources and Acknowledgments
1 Introduction
2 Introduction to the Human Genome
3 The Human Genome: Gene Structure and Function
4 Human Genetic Diversity: Genomic Variation
5 Principles of Clinical  Cytogenomics and Genome Analysis
6 The Chromosomal and  Genomic Basis of Disease: Disorders  of the Autosomes and Sex Chromosomes
7 Patterns of Single-Gene Inheritance
8 Complex Inheritance of Common Multifactorial Disorders
9 Genetic Variation in Populations
10 Identifying the Genetic  Basis for Human Disease
11 The Molecular Basis of Genetic Disease
12 The Molecular, Biochemical,  and Cellular Basis of Genetic Disease
13 The Treatment of Genetic Disease
14 Developmental Genetics and Birth Defects
15 Cancer Genetics and Genomics
16 Risk Assessment and Genetic Counseling
17 Preconception and Prenatal Screening and Diagnosis
18 Application of Genomics to  Medicine and Individualized Health Care
19 Ethical and Social Issues  in Genetics and Genomics
 Epigenetics
 Cases: Clinical Case Studies  Illustrating Genetic Principles
 Glossary
 Answers to Problems
 Index

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