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Human Genetics: From Molecules to Medicine
Christian Patrick Schaaf
,
Johannes Zschocke
,
Lorraine Potocki
Buy Now in Print
Table of Contents
Images
(179)
Table of Contents
Images
(179)
Copyright
Dedication
Foreword
Preface
Authors
Acknowledgments
About the Cover Art and Photography
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Chapter 1: Introduction
I: The Biological Basis of Human Genetics
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Chapter 2: Molecular Basis of Human Genetics
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Chapter 3: Mutations and Genetic Variability
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Chapter 4: Pathomechanisms of Genetic Diseases
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Chapter 5: Modes of Inheritance
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Chapter 6: Twin Pregnancies
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Chapter 7: Cancer Genetics
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Chapter 8: Aging and Genetics
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Chapter 9: Pharmacogenetics
II: The Clinical Basis of Human Genetics
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Chapter 10: Human Genetics as a Medical Specialty
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Chapter 11: Genetic Counseling
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Chapter 12: The Diagnostic Approach for a Child with Multiple Anomalies or Dysmorphic Features
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Chapter 13: Malformations and Other Morphological Disturbances
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Chapter 14: Risk Estimation and Calculation
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Chapter 15: Methods for Laboratory Diagnostics in Genetics
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Chapter 16: Metabolic Diagnostics and Newborn Screening
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Chapter 17: Prenatal Genetic Evaluation
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Chapter 18: Ethical Concerns in Medical Genetics
III: Clinical Genetics
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Chapter 19: Multiple Congenital Anomalies
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Chapter 20: Skin and Connective Tissue
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Chapter 21: Cardiovascular System and Hematology
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Chapter 22: Respiratory System
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Chapter 23: Gastrointestinal and Digestive System
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Chapter 24: Metabolic Disorders
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Chapter 25: Endocrinology and Immune System
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Chapter 26: Skeletal System
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Chapter 27: Urinary System
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Chapter 28: Genital System and Sexual Development
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Chapter 29: Visual System
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Chapter 30: Auditory System
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Chapter 31: Neurological and Neuromuscular Disorders
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Chapter 32: Neoplastic Diseases
IV: Approaches to Clinical Problems
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Chapter 33: Infertility and Sterility
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Chapter 34: Miscarriage and Fetal Demise
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Chapter 35: Growth Disturbances
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Chapter 36: Abnormal Head Size
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Chapter 37: Immunodeficiency Syndromes
V: Living with Genetic Disorders: Patient Reports
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Chapter 38: Reports of Patients and Their Families
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Glossary
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