Schaefer B. Medical Genetics. An Integrated Approach 2014

Textbook in PDF format

A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine, Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine.
Genetics: Unity and Diversity
Information Flow and Levels of Regulation
The Organization of Development
The Structure and Function of Genes
Clinical Cytogenetics
Mendelian Genetics: Patterns of Gene Transmission
Mutation
Metabolism
Family History and Pedigree Analysis
Multifactorial Inheritance and Gene × Environment Interactions
Genetic Testing and Screening
Atypical Modes of Inheritance
Disorders of Organelles
Genetic Therapeutics
Population Genetics and Genetic Diversity
Of Fruit Flies, Mice, and Patients: Tying It All Together