Description

Book Synopsis


Table of Contents
1 The History and Impact of Genetics in Medicine Section A: The Scientific Basis of Human Genetics 2 The Cellular and Molecular Basis of Inheritance 3 Chromosomes and Cell Division 4 Finding the Cause of Monogenic Disorders by Identifying Disease Genes 5 Laboratory Techniques for Diagnosis of Monogenic Disorders 6 Patterns of Inheritance 7 Population and Mathematical Genetics 8 Risk Calculation 9 Developmental Genetics Section B: Genetics in Medicine and Genomic Medicine 10 Common Disease, Polygenic and Multifactorial Genetics 11 Screening for Genetic Disease 12 Haemoglobin and the Haemoglobinopathies 13 Immunogenetics 14 The Genetics of Cancer. . .and Cancer Genetics 15 Pharmacogenomics, Precision Medicine and the Treatment of Genetic Disease Section C: Clinical Genetics, Counselling and Ethics 16 Congenital Abnormalities, Dysmorphic Syndromes and Intellectual Disability 17 Chromosome Disorders 18 Inborn Errors of Metabolism 19 Mainstream Monogenic Disorders 20 Prenatal Testing and Reproductive Genetics 21 Genetic Counselling 22 Ethical and Legal Issues in Medical Genetics

Emerys Elements of Medical Genetics and Genomics

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    A Paperback / softback by Peter D Turnpenny, Sian Ellard, Ruth Cleaver

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      Book details

      Publisher Elsevier Health Sciences
      Published 13 February 2021
      ISBN-13 9780702079665
      978-0702079665
      ISBN-10 0702079669
      Also in:
      Education Medical genetics Medical study and revision guides

      Description

      Book Synopsis


      Table of Contents
      1 The History and Impact of Genetics in Medicine Section A: The Scientific Basis of Human Genetics 2 The Cellular and Molecular Basis of Inheritance 3 Chromosomes and Cell Division 4 Finding the Cause of Monogenic Disorders by Identifying Disease Genes 5 Laboratory Techniques for Diagnosis of Monogenic Disorders 6 Patterns of Inheritance 7 Population and Mathematical Genetics 8 Risk Calculation 9 Developmental Genetics Section B: Genetics in Medicine and Genomic Medicine 10 Common Disease, Polygenic and Multifactorial Genetics 11 Screening for Genetic Disease 12 Haemoglobin and the Haemoglobinopathies 13 Immunogenetics 14 The Genetics of Cancer. . .and Cancer Genetics 15 Pharmacogenomics, Precision Medicine and the Treatment of Genetic Disease Section C: Clinical Genetics, Counselling and Ethics 16 Congenital Abnormalities, Dysmorphic Syndromes and Intellectual Disability 17 Chromosome Disorders 18 Inborn Errors of Metabolism 19 Mainstream Monogenic Disorders 20 Prenatal Testing and Reproductive Genetics 21 Genetic Counselling 22 Ethical and Legal Issues in Medical Genetics

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