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Texts
Human Genetics: From Molecules to Medicine, 1e
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
Acknowledgments
About the Cover Art and Photography
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1: Introduction
p1-4
I: The Biological Basis of Human Genetics
p5-104
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2: Molecular Basis of Human Genetics
p7-31
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3: Mutations and Genetic Variability
p32-51
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4: Pathomechanisms of Genetic Diseases
p52-74
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5: Modes of Inheritance
p75-86
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6: Twin Pregnancies
p87-89
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7: Cancer Genetics
p90-94
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8: Aging and Genetics
p95-98
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9: Pharmacogenetics
p99-104
II: The Clinical Basis of Human Genetics
p105-176
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10: Human Genetics as a Medical Specialty
p107-108
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11: Genetic Counseling
p109-112
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12: The Diagnostic Approach for a Child with Multiple Anomalies or Dysmorphic Features
p113-121
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13: Malformations and Other Morphological Disturbances
p122-138
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14: Risk Estimation and Calculation
p139-148
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15: Methods for Laboratory Diagnostics in Genetics
p149-161
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16: Metabolic Diagnostics and Newborn Screening
p162-166
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17: Prenatal Genetic Evaluation
p167-172
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18: Ethical Concerns in Medical Genetics
p173-176
III: Clinical Genetics
p177-342
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19: Multiple Congenital Anomalies
p179-199
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20: Skin and Connective Tissue
p200-209
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21: Cardiovascular System and Hematology
p210-228
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22: Respiratory System
p229-235
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23: Gastrointestinal and Digestive System
p236-243
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24: Metabolic Disorders
p244-259
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25: Endocrinology and Immune System
p260-265
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26: Skeletal System
p266-275
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27: Urinary System
p276-278
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28: Genital System and Sexual Development
p279-283
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29: Visual System
p284-288
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30: Auditory System
p289-290
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31: Neurological and Neuromuscular Disorders
p291-316
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32: Neoplastic Diseases
p317-342
IV: Approaches to Clinical Problems
p343-368
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33: Infertility and Sterility
p345-351
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34: Miscarriage and Fetal Demise
p352-354
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35: Growth Disturbances
p355-361
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36: Abnormal Head Size
p362-365
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37: Immunodeficiency Syndromes
p366-368
V: Living with Genetic Disorders: Patient Reports
p369-374
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38: Reports of Patients and Their Families
p371-374
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Glossary
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