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Informationen zum Autor Edward S. Tobias , Professor of Genetic Medicine, University of Glasgow, and Honorary Consultant in Medical Genetics, West of Scotland Regional Genetics Service, Institute of Medical Genetics, Glasgow. Medical Genetics undergraduate Teaching Lead, Clinical Director, MSc in Medical Genetics, and Fellow of the Higher Education Authority. Dr Tobias won the Best College Teacher Award at Glasgow University in March 2013, as chosen by the Student Representative Council and the students themselves. He also won the Teaching Excellence Award 2012 from the University's Principal and Senate Committee. Glasgow University came top in the UK National Student Survey 2012 for Genetics teaching. Michael Connor , Professor of Medical Genetics, University of Glasgow, and Director of the West of Scotland Regional Genetics Service, Institute of Medical Genetics, Yorkhill, Glasgow. Malcolm Ferguson-Smith , Emeritus Professor of Pathology, University of Cambridge and formerly Director of the East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge. Klappentext Adopted at Cambridge UniversityEssential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders.This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.Reviews of the previous edition"This book is an easy to read, well illustrated introduction to medical genetics. It deals nicely with all the classical aspects of the subject..."Black Bag, Medical Students' Society of Bristol University"...a justifiably popular introductory text."The British Medical Journal Zusammenfassung Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. Inhaltsverzeichnis Preface vii Acknowledgements ix How to get the best out of your textbook x Part 1: Basic principles 1 1 Medical genetics in perspective 3 Scientific basis of medical genetics 5 Clinical applications of medical genetics 9 2 The human genome 13 Structure and organisation of the genome 14 Gene identification 14 The Human Genome Project 14 3 Nucleic acid structure and function 23 Nucleic acid structure 24 Nucleic acid function 26 Gene regulation 29 DNA replication 31 Mutation types, effects and nomenclature 32 4 DNA analysis 41<...
