A Practical Guide To Human Cancer Genetics

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A Practical Guide to Human Cancer Genetics

Author : Shirley V. Hodgson
Publisher : Cambridge University Press
ISBN 13 : 9780521640251
Total Pages : 288 pages
Book Rating : 4.6/5 (42 download)

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Book Synopsis A Practical Guide to Human Cancer Genetics by : Shirley V. Hodgson

Download or read book A Practical Guide to Human Cancer Genetics written by Shirley V. Hodgson and published by Cambridge University Press. This book was released on 1999 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: This extensively updated and expanded edition provides the busy clinician with an essential overview of the latest developments in human cancer genetics--an area that has made significant advances since publication of the first edition. The opening section presents the principles of cancer genetics and introduces the basic concepts and mechanisms of tumorigenesis and inherited predisposition to cancer. The second part of the book provides information, on a systems basis, on the incidence, significance and management of predisposition to individual cancers. The final section deals with specific inherited cancer syndromes, giving practical guidance on clinical investigation, screening and management of affected patients and relatives at risk. The authors also provide up-to-date details of the genetic mapping of inherited cancer syndromes and the molecular genetic changes in individual cancers. Finally, an appendix provides a helpful revision guide to the fundamental principles of genetics. This practical and clear account will benefit clinicians and research workers in oncology, genetics, surgery and general medicine.

A Practical Guide to Human Cancer Genetics

Author : S. V. Hodgson
Publisher : Cambridge University Press
ISBN 13 : 052168563X
Total Pages : 411 pages
Book Rating : 4.5/5 (216 download)

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Book Synopsis A Practical Guide to Human Cancer Genetics by : S. V. Hodgson

Download or read book A Practical Guide to Human Cancer Genetics written by S. V. Hodgson and published by Cambridge University Press. This book was released on 2007 with total page 411 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2006 third edition of this very successful book provides a comprehensive and practical guide to the diagnosis and management of inherited disorders conferring susceptibility to cancer. Issues discussed include risk assessment, genetic counselling, predictive testing and organisation of a cancer genetics service. A full reference list gives access to background literature. With molecular information, screening guidelines and management advice, this new edition will provide geneticists and clinicians in all disciplines with an invaluable resource for screening, managing and advising patients.

A Practical Guide to Human Cancer Genetics

Author : Shirley V. Hodgson
Publisher : Springer
ISBN 13 : 9781447123767
Total Pages : 420 pages
Book Rating : 4.1/5 (237 download)

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Book Synopsis A Practical Guide to Human Cancer Genetics by : Shirley V. Hodgson

Download or read book A Practical Guide to Human Cancer Genetics written by Shirley V. Hodgson and published by Springer. This book was released on 2013-11-27 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.

A Practical Guide to Human Cancer Genetics

Author : Shirley V. Hodgson
Publisher : Springer Science & Business Media
ISBN 13 : 1447123751
Total Pages : 434 pages
Book Rating : 4.4/5 (471 download)

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Book Synopsis A Practical Guide to Human Cancer Genetics by : Shirley V. Hodgson

Download or read book A Practical Guide to Human Cancer Genetics written by Shirley V. Hodgson and published by Springer Science & Business Media. This book was released on 2013-11-22 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.

Human Genetics and Genomics

Author : Bahar Taneri
Publisher : John Wiley & Sons
ISBN 13 : 3527337482
Total Pages : 163 pages
Book Rating : 4.5/5 (273 download)

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Book Synopsis Human Genetics and Genomics by : Bahar Taneri

Download or read book Human Genetics and Genomics written by Bahar Taneri and published by John Wiley & Sons. This book was released on 2020-06-02 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: Finally meeting the need for a laboratory manual on human genetics, this practical guide is the perfect companion title to all major standard textbooks on the subject. The authors all have a high-level research background and are actively involved in teaching and counseling. Based on a standard curriculum in human genetics, each chapter equals one practical unit of the course and topics range from basics in human inheritance to genetics in major disease clusters and from bioinformatics and personalized medicine to genetic counseling.

A Practical Guide to Human Cancer Genetics

Author : S. V. Hodgson
Publisher : Cambridge University Press
ISBN 13 : 9780521409513
Total Pages : 258 pages
Book Rating : 4.4/5 (95 download)

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Book Synopsis A Practical Guide to Human Cancer Genetics by : S. V. Hodgson

Download or read book A Practical Guide to Human Cancer Genetics written by S. V. Hodgson and published by Cambridge University Press. This book was released on 1993-02-25 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt: This extensively up-dated and expanded edition provides the busy clinician with an essential overview of the latest developments in human cancer genetics - an area that has made significant advances since publication of the first edition. The opening section presents the principles of cancer genetics and introduces the basic concepts and mechanisms of tumorigenesis and inherited predisposition to cancer. The second part of the book provides information, on a systems basis, on the incidence, significance and management of predisposition to individual cancers. The final section then deals with specific inherited cancer syndromes, giving practical guidance on clinical investigation, screening and management of affected patients and relatives at risk. Up-to-date details of the genetic mapping of inherited cancer syndromes and the molecular genetic changes in individual cancers are also provided. Finally, an appendix provides a helpful revision guide to the fundamental principles of genetics. This practical and clear account will benefit clinicians and research workers in oncology, genetics, surgery and general medicine.

A Guide to Genetic Counseling

Author : Wendy R. Uhlmann
Publisher : John Wiley & Sons
ISBN 13 : 1118210530
Total Pages : 647 pages
Book Rating : 4.1/5 (182 download)

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Book Synopsis A Guide to Genetic Counseling by : Wendy R. Uhlmann

Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 647 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Bioinformatics

Author : Andreas D. Baxevanis
Publisher : John Wiley & Sons
ISBN 13 : 0471461016
Total Pages : 504 pages
Book Rating : 4.4/5 (714 download)

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Book Synopsis Bioinformatics by : Andreas D. Baxevanis

Download or read book Bioinformatics written by Andreas D. Baxevanis and published by John Wiley & Sons. This book was released on 2004-03-24 with total page 504 pages. Available in PDF, EPUB and Kindle. Book excerpt: "In this book, Andy Baxevanis and Francis Ouellette . . . haveundertaken the difficult task of organizing the knowledge in thisfield in a logical progression and presenting it in a digestibleform. And they have done an excellent job. This fine text will makea major impact on biological research and, in turn, on progress inbiomedicine. We are all in their debt." —Eric Lander from the Foreword Reviews from the First Edition "...provides a broad overview of the basic tools for sequenceanalysis ... For biologists approaching this subject for the firsttime, it will be a very useful handbook to keep on the shelf afterthe first reading, close to the computer." —Nature Structural Biology "...should be in the personal library of any biologist who usesthe Internet for the analysis of DNA and protein sequencedata." —Science "...a wonderful primer designed to navigate the novice throughthe intricacies of in scripto analysis ... The accomplished genesearcher will also find this book a useful addition to theirlibrary ... an excellent reference to the principles ofbioinformatics." —Trends in Biochemical Sciences This new edition of the highly successful Bioinformatics:A Practical Guide to the Analysis of Genes and Proteinsprovides a sound foundation of basic concepts, with practicaldiscussions and comparisons of both computational tools anddatabases relevant to biological research. Equipping biologists with the modern tools necessary to solvepractical problems in sequence data analysis, the Second Editioncovers the broad spectrum of topics in bioinformatics, ranging fromInternet concepts to predictive algorithms used on sequence,structure, and expression data. With chapters written by experts inthe field, this up-to-date reference thoroughly covers vitalconcepts and is appropriate for both the novice and the experiencedpractitioner. Written in clear, simple language, the book isaccessible to users without an advanced mathematical or computerscience background. This new edition includes: All new end-of-chapter Web resources, bibliographies, andproblem sets Accompanying Web site containing the answers to the problems,as well as links to relevant Web resources New coverage of comparative genomics, large-scale genomeanalysis, sequence assembly, and expressed sequence tags A glossary of commonly used terms in bioinformatics andgenomics Bioinformatics: A Practical Guide to the Analysis of Genesand Proteins, Second Edition is essential reading forresearchers, instructors, and students of all levels in molecularbiology and bioinformatics, as well as for investigators involvedin genomics, positional cloning, clinical research, andcomputational biology.

Genetics of Complex Human Diseases

Author : Ammar Al-Chalabi
Publisher :
ISBN 13 : 9780879698829
Total Pages : 0 pages
Book Rating : 4.6/5 (988 download)

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Book Synopsis Genetics of Complex Human Diseases by : Ammar Al-Chalabi

Download or read book Genetics of Complex Human Diseases written by Ammar Al-Chalabi and published by . This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many human diseases â€“ including Alzheimer's disease, schizophrenia, cancer, and cardiovascular disease â€“ have complex genetics that require sophisticated analysis. Genetics of Complex Human Diseases: A Laboratory Manual& brings together the tools that geneticists use to find disease genes with the genetic concepts and statistical theories that underpin these research approaches. Topics covered include basic genetics and Mendelian inheritance, statistical methods, genetic epidemiology, linkage studies, transmission disequilibrium test analysis, variance components analysis, genome-wide association studies, copy-number variation, methods for high-throughput genotyping, the complexity of RNA editing, and genetic computer programs. The book's chapters, written by leading investigators in the field, blend practical information and reviews of each topic, providing both the how and the why of complex disease analysis. Genetics of Complex Human Diseasesis an important guide for anyone with an interest in human genetics or who uses genetic techniques in the study of diseases with complex inheritance.

A Cancer in the Family

Author : Theodora Ross, MD, PhD
Publisher : Penguin
ISBN 13 : 0698197895
Total Pages : 306 pages
Book Rating : 4.6/5 (981 download)

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Book Synopsis A Cancer in the Family by : Theodora Ross, MD, PhD

Download or read book A Cancer in the Family written by Theodora Ross, MD, PhD and published by Penguin. This book was released on 2016-02-02 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Kirkus Best Book of 2016 Oncologist and cancer gene hunter Theo Ross delivers the first authoritative, go-to for people facing a genetic predisposition for cancer There are 13 million people with cancer in the United States, and it’s estimated that about 1.3 million of these cases are hereditary. Yet despite advanced training in cancer genetics and years of practicing medicine, Dr. Theo Ross was never certain whether the history of cancers in her family was simple bad luck or a sign that they were carriers of a cancer-causing genetic mutation. Then she was diagnosed with melanoma, and for someone with a dark complexion, melanoma made no sense. It turned out there was a genetic factor at work. Using her own family’s story, the latest science of cancer genetics, and her experience as a practicing physician, Ross shows readers how to spot the patterns of inherited cancer, how to get tested for cancer-causing genes, and what to do if you have one. With a foreword by Siddartha Mukherjee, prize winning author of The Emperor of All Maladies, this will be the first authoritative, go-to for people facing inherited cancer, this book empowers readers to face their genetic heritage without fear and to make decisions that will keep them and their families healthy.

Practical Guide to Life Science Databases

Author : Imad Abugessaisa
Publisher : Springer Nature
ISBN 13 : 9811658129
Total Pages : 228 pages
Book Rating : 4.8/5 (116 download)

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Book Synopsis Practical Guide to Life Science Databases by : Imad Abugessaisa

Download or read book Practical Guide to Life Science Databases written by Imad Abugessaisa and published by Springer Nature. This book was released on 2022-01-06 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the latest information of life science databases that center in the life science research and drive the development of the field. It introduces the fundamental principles, rationales and methodologies of creating and updating life science databases. The book brings together expertise and renowned researchers in the field of life science databases and brings their experience and tools at the fingertips of the researcher. The book takes bottom-up approach to explain the structure, content and the usability of life science database. Detailed explanation of the content, structure, query and data retrieval are discussed to provide practical use of life science database and to enable the reader to use database and provided tools in practice. The readers will learn the necessary knowledge about the untapped opportunities available in life science databases and how it could be used so as to advance basic research and applied research findings and transforming them to the benefit of human life. Chapter 2 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Positive Results

Author : Joi L. Morris
Publisher : Prometheus Books
ISBN 13 : 1615927735
Total Pages : 397 pages
Book Rating : 4.6/5 (159 download)

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Book Synopsis Positive Results by : Joi L. Morris

Download or read book Positive Results written by Joi L. Morris and published by Prometheus Books. This book was released on 2010-06-03 with total page 397 pages. Available in PDF, EPUB and Kindle. Book excerpt: This unique and important guidebook is a single, comprehensive source of information and advice to help women (and some men) at high risk for breast and for ovarian cancer because of family history and genetic profile. One part memoir, three parts "how to" manual, Positive Results explains in a clear and steady manner the myths and realities of "the breast cancer genes." It lays out all the options in easy-to-follow, compassionate language. It will help women and men decide if they want to pursue genetic testing, guide them in interpreting their test results, and give them a sound basis for making the life-saving decisions required to manage their risks. Authors Joi Morris and Dr. Ora Karp Gordon cover all of the latest medical options, including genetic testing for breast cancer risk, breast cancer surveillance, assessing risk, mastectomy and breast reconstruction techniques, ovarian cancer surveillance, surgery, managing menopause, and cancer risks in men who carry mutations on BRCA genes. Along the way, Joi tells her personal story and that of other women and men who have made the gut-wrenching decisions required to survive in this world of astronomical risk. At the age of forty-two, Joi learned that she has a genetic mutation on a gene known as BRCA2. The test results meant that her risk of getting breast cancer could be as high as 84 percent by age seventy, and that her risk for ovarian cancer was also high. Compounding her risk was the fact that her mother had developed breast cancer in her forties. After much research and consultation, the result of which is this book, Joi made the difficult decision of undergoing prophylactic mastectomies. This straightforward and practical approach combined with the poignant personal experience of a woman at risk facing these challenging decisions will provide readers with the feeling that they have had the benefit of a long conversation with both a trusted physician and a friend who has just gone through the same uncertainties they are facing.

Epidemiology of Brain and Spinal Tumors

Author : Jahangir Moini
Publisher : Academic Press
ISBN 13 : 0128217553
Total Pages : 554 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Epidemiology of Brain and Spinal Tumors by : Jahangir Moini

Download or read book Epidemiology of Brain and Spinal Tumors written by Jahangir Moini and published by Academic Press. This book was released on 2021-04-09 with total page 554 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epidemiology of Brain and Spinal Tumors provides a single volume resource on imaging methods and neuroepidemiology of both brain and spinal tumors. The book covers a variety of imaging techniques, including computed tomography (CT), MRI, positron emission tomography (PET), and other laboratory tests used in diagnosis and treatment. Detailed epidemiology, various imaging methods, and clinical considerations of tumors of the CNS make this an ideal reference for users who will also find diverse information about structures and functions, cytology, epidemiology (including molecular epidemiology), diagnosis and treatment. This book is appropriate for neuroscience researchers, medical professionals and anyone interested in a complete guide to visualizing and understanding CNS tumors. - Provides the most up-to-date information surrounding the epidemiology, biology and imaging techniques for brain and spinal tumors, including CT, MRI, PET, and others - Includes full color figures, photos, tables, graphs and radioimaging - Contains information that will be valuable to anyone interested in the field of neurooncology and the treatment of patients with brain and spinal tumors - Serves as a source of background information for basic scientists and pharmaceutical researchers who have an interest in imaging and treatment

The Practical Guide to the Genetic Family History

Author : Robin L. Bennett
Publisher : John Wiley & Sons
ISBN 13 : 0471459143
Total Pages : 271 pages
Book Rating : 4.4/5 (714 download)

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Book Synopsis The Practical Guide to the Genetic Family History by : Robin L. Bennett

Download or read book The Practical Guide to the Genetic Family History written by Robin L. Bennett and published by John Wiley & Sons. This book was released on 2004-04-07 with total page 271 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.

Emery's Elements of Medical Genetics E-Book

Author : Peter D Turnpenny
Publisher : Elsevier Health Sciences
ISBN 13 : 0702079677
Total Pages : 448 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Emery's Elements of Medical Genetics E-Book by : Peter D Turnpenny

Download or read book Emery's Elements of Medical Genetics E-Book written by Peter D Turnpenny and published by Elsevier Health Sciences. This book was released on 2020-12-15 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics. Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Medical Genetics

Author : Lynn B. Jorde
Publisher :
ISBN 13 : 9780323035682
Total Pages : 0 pages
Book Rating : 4.0/5 (356 download)

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Book Synopsis Medical Genetics by : Lynn B. Jorde

Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2003 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!