New Clinical Genetics, Second Edition

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9781904842804: New Clinical Genetics, Second Edition

From reviews of the first edition: Very few books have attempted to do what the authors have accomplished so well. They make genetics simple, attractive, and real. They provide a link between daily situations in the practice of clinical genetics and the complex information available in human genetics. I look forward to subsequent editions of this wonderful work. Doody's Notes This book provides a wonderful case-based learning environment. There are also self assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent! Human Genetics This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge. European Journal of Human Genetics The book can also be read through the case studies which span the chapters and follow the experience of individual families to illustrate specific points. This is a novel approach and, as in real life, the information on families is slowly teased out, covering a combination of topics. The use of such case studies brings genetics to life. Ulster Medical Journal The second edition of New Clinical Genetics has been comprehensively updated, but the unique structure and format of the first edition have been retained. New cases have been introduced covering Fragile X and the identification of an underlying chromosome problem by SNP chip analysis. While many of the basic scientific principles remain, much new material has been added: b7; SNP arrays and next generation sequencing (including whole exome sequencing) are described and their impact on clinical genetic services discussed b7; noncoding RNAs are covered in more detail b7; developmental pathways are discussed in the context of the RAS-MAPK pathway b7; the value and limitations of genome-wide association studies for identifying susceptibility to common diseases are reviewed in the light of the extensive experimental data now available b7; the final chapter has been substantially enlarged to show how genetic services are delivered and the increasing role of clinical geneticists in patient management The innovative integrated case-based approach coupled with the clear writing style of the authors has made this book a hugely successful textbook for medical students worldwide. It is also an essential guide to modern medical genetics for all those involved in the field, from clinical and nurse geneticists to genetic counselors. Printed in full colour throughout.

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About the Author:

Andrew Read (PhD, FRCPath, FMedSci) is Professor of Human Genetics at the University of Manchester. He is co-author of Strachan and Read's Human Molecular Genetics the leading advanced textbook on the subject. He established one of the first molecular genetic diagnostic services in the UK and has a long-standing interest in what genetic testing can and should, achieve. Dian Donnai (FRCP, FRCPCH, FMedSci) is Professor of Medical Genetics at the University of Manchester and Consultant Clinical Geneticist in the NW Regional Genetics Service. She is one of the world's leading authorities on clinical genetics, especially the study of dysmorphic syndromes, and is an advisor to many national and international bodies on the clinical application of genetics.


'I just taught with this text. It is the best text I have seen. The relevance of genetics to human medicine was apparent and it really caught the interest of the students without watering things down to the point where there were clinical vignettes, but no substantial learning opportunities in genetics to build the foundation that our students need. My hat is off to the authors and their unique design. We will certainly use the book again.' --Professor Geoffrey Kapler, Department of Molecular and Cellular Medicine, Texas A&M Health Science Center

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