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.

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.

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.

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.

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,

Molecular Diagnostics

Author : Wayne W. Grody
Publisher : Academic Press
ISBN 13 : 0080919049
Total Pages : 518 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Molecular Diagnostics by : Wayne W. Grody

Download or read book Molecular Diagnostics written by Wayne W. Grody and published by Academic Press. This book was released on 2009-11-06 with total page 518 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. - Serves as the definitivereference for molecular pathologists worldwide - Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics - Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science

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,

Reproductive Genetics

Author : Sean Kehoe
Publisher : RCOG
ISBN 13 : 1906985162
Total Pages : 245 pages
Book Rating : 4.9/5 (69 download)

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Book Synopsis Reproductive Genetics by : Sean Kehoe

Download or read book Reproductive Genetics written by Sean Kehoe and published by RCOG. This book was released on 2009-11 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

Clinical Epidemiology

Author : Diederick E. Grobbee
Publisher : Jones & Bartlett Learning
ISBN 13 : 1284066037
Total Pages : 418 pages
Book Rating : 4.2/5 (84 download)

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Book Synopsis Clinical Epidemiology by : Diederick E. Grobbee

Download or read book Clinical Epidemiology written by Diederick E. Grobbee and published by Jones & Bartlett Learning. This book was released on 2014-01-23 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now updated with new data and examples throughout, Clinical Epidemiology: Principles, Methods, and Applications for Clinical Research, Second Edition is a comprehensive resource that introduces the reader to the basics of clinical epidemiology and explores the principles and methods that can be used to obtain quantitative evidence on the effects of interventions and on the diagnosis, etiology, and prognosis of disease. The everyday challenges of clinical research and the quantitative knowledge required to practice medicine are also examined, making this book a valuable reference for both graduate and undergraduate students in medicine and related disciplines, as well as for professionals involved in the design and conduct of clinical research.