Emery And Rimoins Principles And Practice Of Medical Genetics

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Emery and Rimoin's Principles and Practice of Medical Genetics

Author : David L. Rimoin
Publisher :
ISBN 13 :
Total Pages : 1264 pages
Book Rating : 4.:/5 ( download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by David L. Rimoin and published by . This book was released on 2007 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt: "For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Author : Reed E. Pyeritz
Publisher : Elsevier
ISBN 13 : 0128152354
Total Pages : 1227 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2024-10-23 with total page 1227 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics

Emery and Rimoin's Essential Medical Genetics

Author : David L. Rimoin
Publisher : Elsevier
ISBN 13 : 0124169821
Total Pages : 647 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Emery and Rimoin's Essential Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Essential Medical Genetics written by David L. Rimoin and published by Elsevier. This book was released on 2013-05-15 with total page 647 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

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!

Emery's Elements of Medical Genetics

Author : Robert F. Mueller
Publisher :
ISBN 13 :
Total Pages : 388 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Emery's Elements of Medical Genetics by : Robert F. Mueller

Download or read book Emery's Elements of Medical Genetics written by Robert F. Mueller and published by . This book was released on 2001 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

Cancer Genomics

Author : Graham Dellaire
Publisher : Academic Press
ISBN 13 : 0123972744
Total Pages : 511 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis Cancer Genomics by : Graham Dellaire

Download or read book Cancer Genomics written by Graham Dellaire and published by Academic Press. This book was released on 2013-11-21 with total page 511 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics addresses how recent technological advances in genomics are shaping how we diagnose and treat cancer. Built on the historical context of cancer genetics over the past 30 years, the book provides a snapshot of the current issues and state-of-the-art technologies used in cancer genomics. Subsequent chapters highlight how these approaches have informed our understanding of hereditary cancer syndromes and the diagnosis, treatment and outcome in a variety of adult and pediatric solid tumors and hematologic malignancies. The dramatic increase in cancer genomics research and ever-increasing availability of genomic testing are not without significant ethical issues, which are addressed in the context of the return of research results and the legal considerations underlying the commercialization of genomic discoveries. Finally, the book concludes with "Future Directions", examining the next great challenges to face the field of cancer genomics, namely the contribution of non-coding RNAs to disease pathogenesis and the interaction of the human genome with the environment. - Tools such as sidebars, key concept summaries, a glossary, and acronym and abbreviation definitions make this book highly accessible to researchers from several fields associated with cancer genomics. - Contributions from thought leaders provide valuable historical perspective to relate the advances in the field to current technologies and literature.

A Short History of Medical Genetics

Author : Peter S. Harper
Publisher : Oxford University Press
ISBN 13 : 0195187504
Total Pages : 570 pages
Book Rating : 4.1/5 (951 download)

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Book Synopsis A Short History of Medical Genetics by : Peter S. Harper

Download or read book A Short History of Medical Genetics written by Peter S. Harper and published by Oxford University Press. This book was released on 2008 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Clinical Cardiogenetics

Author : H.F. Baars
Publisher : Springer Science & Business Media
ISBN 13 : 1849964718
Total Pages : 453 pages
Book Rating : 4.8/5 (499 download)

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Book Synopsis Clinical Cardiogenetics by : H.F. Baars

Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

Applied Statistical Genetics with R

Author : Andrea S. Foulkes
Publisher : Springer Science & Business Media
ISBN 13 : 038789554X
Total Pages : 264 pages
Book Rating : 4.3/5 (878 download)

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Book Synopsis Applied Statistical Genetics with R by : Andrea S. Foulkes

Download or read book Applied Statistical Genetics with R written by Andrea S. Foulkes and published by Springer Science & Business Media. This book was released on 2009-04-28 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Statistical genetics has become a core course in many graduate programs in public health and medicine. This book presents fundamental concepts and principles in this emerging field at a level that is accessible to students and researchers with a first course in biostatistics. Extensive examples are provided using publicly available data and the open source, statistical computing environment, R.

Genetics in Medicine

Author : James Scott Thompson
Publisher : Philadelphia ; Toronto : W.B. Saunders
ISBN 13 :
Total Pages : 424 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genetics in Medicine by : James Scott Thompson

Download or read book Genetics in Medicine written by James Scott Thompson and published by Philadelphia ; Toronto : W.B. Saunders. This book was released on 1973 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Statistical Genetics

Author : Benjamin Neale
Publisher : Garland Science
ISBN 13 : 1134129335
Total Pages : 607 pages
Book Rating : 4.1/5 (341 download)

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Book Synopsis Statistical Genetics by : Benjamin Neale

Download or read book Statistical Genetics written by Benjamin Neale and published by Garland Science. This book was released on 2007-11-30 with total page 607 pages. Available in PDF, EPUB and Kindle. Book excerpt: Statistical Genetics is an advanced textbook focusing on conducting genome-wide linkage and association analysis in order to identify the genes responsible for complex behaviors and diseases. Starting with an introductory section on statistics and quantitative genetics, it covers both established and new methodologies, providing the genetic and statistical theory on which they are based. Each chapter is written by leading researchers, who give the reader the benefit of their experience with worked examples, study design, and sources of error. The text can be used in conjunction with an associated website (www.genemapping.org) that provides supplementary material and links to downloadable software.

Practical Guide to Transcranial Direct Current Stimulation

Author : Helena Knotkova
Publisher : Springer
ISBN 13 : 3319959484
Total Pages : 652 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Practical Guide to Transcranial Direct Current Stimulation by : Helena Knotkova

Download or read book Practical Guide to Transcranial Direct Current Stimulation written by Helena Knotkova and published by Springer. This book was released on 2019-01-23 with total page 652 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview on Transcranial Direct Current Stimulation (tDCS) and the clinical applications of this promising technique. Separated into three parts, the book begins with basic principles, mechanisms and approaches of tDCS. This is followed by a step-by-step practicum, methodological considerations and ethics and professional conduct pertaining to this novel technique. Chapters are authored by renowned experts who also direct and plan tDCS educational events worldwide. Bridging the existing gap in instructional materials for tDCS while addressing growing interest in education in this field, professionals within a broad range of medical disciplines will find this text to be an invaluable guide.

Essential Medical Genetics

Author : Michael Connor
Publisher : Wiley-Blackwell
ISBN 13 : 9780865426665
Total Pages : 248 pages
Book Rating : 4.4/5 (266 download)

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Book Synopsis Essential Medical Genetics by : Michael Connor

Download or read book Essential Medical Genetics written by Michael Connor and published by Wiley-Blackwell. This book was released on 1997-04-29 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.

Essentials of Medical Genetics for Health Professionals

Author : Laura M. Gunder McClary
Publisher : Jones & Bartlett Publishers
ISBN 13 : 1449618081
Total Pages : 249 pages
Book Rating : 4.4/5 (496 download)

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Book Synopsis Essentials of Medical Genetics for Health Professionals by : Laura M. Gunder McClary

Download or read book Essentials of Medical Genetics for Health Professionals written by Laura M. Gunder McClary and published by Jones & Bartlett Publishers. This book was released on 2010-09-17 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank.

Genomics and Proteomics

Author : Devarajan Thangadurai
Publisher : CRC Press
ISBN 13 : 149872311X
Total Pages : 425 pages
Book Rating : 4.4/5 (987 download)

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Book Synopsis Genomics and Proteomics by : Devarajan Thangadurai

Download or read book Genomics and Proteomics written by Devarajan Thangadurai and published by CRC Press. This book was released on 2015-06-09 with total page 425 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides scope and knowledge on advanced techniques and its applications into the modern fields of biotechnology-genomics and proteomics. In this book, different genomics and proteomics technologies and principles are examined. The fundamental knowledge presented in this book opens up an entirely new way of approaching DNA chip technology,

Ergonomics

Author : Pamela McCauley
Publisher : CRC Press
ISBN 13 : 1439897832
Total Pages : 347 pages
Book Rating : 4.4/5 (398 download)

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Book Synopsis Ergonomics by : Pamela McCauley

Download or read book Ergonomics written by Pamela McCauley and published by CRC Press. This book was released on 2011-12-13 with total page 347 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introduction to the field, Ergonomics: Foundational Principles, Applications and Technologies discusses scientific principles, research, applications, and emerging trends in technology. Covering the foundational principles and major topics in physical ergonomics, the book contains the necessary components of a quality ergonomics course,