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Emery And Rimoins Principles And Practice Of Medical Genetics

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Emery and Rimoin s Principles and Practice of Medical Genetics

Emery and Rimoin s Principles and Practice of Medical Genetics Book
Author : David L. Rimoin,Alan E. H. Emery
Publisher : Churchill Livingstone
Release : 2007
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Text with Continually Updated Online Reference! The most definitive and trusted reference in medical genetics is back-complete with state-of-the-art web site! The fifth edition of this comprehensive yet practical resource emphasizes application as well as the theory of medical genetics across the full spectrum of inherited disorders. Get expert clinical advice and guidance from over 250 of the world's most trusted authorities in medical genetics. The E-dition features the 5th edition of the textbook, additional new images, weekly updates, and more! With the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies, Principles and Practice of Medical Genetics will be an invaluable clinical tool for the practicing physician. Bridges the gap between high-level molecular genetics and individual application with practical, clinically oriented information. Includes information on analysis, interpretation, potential problems, and other issues that directly relate to the practicing geneticist. Addresses sensitive issues that may be encountered in practice like carrier screening, prediction, confidentiality, liability, and more. Features contributions from many new authors-The "best and brightest" in the field. Contains a wealth of new information on the human genome, the genetic and molecular basis of disease, and much more. Regular updates from experts in the field, so Emery and Rimoin's stays current year after year. The full text and illustrations - fully searchable - to save time when looking for a fact quickly. An image library, downloadable to PowerPoint, to enhance presentations or lectures. Medline-linked references and direct links to full-text articles, where available, to expand access to important research. Drug information from Mosby's Drug Consult . . . and much more. Your purchase entitles you to access the web site until the next edition is published, or until the current edition is no longer offered for sale by Elsevier, whichever occurs first. If the next edition is published less than one year after your purchase, you will be entitled to online access for one year from your date of purchase. Elsevier reserves the right to offer a suitable replacement product (such as a downloadable or CD-ROM-based electronic version) should access to the web site be discontinued.

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

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2021-11-02
ISBN : 0128152370
Language : En, Es, Fr & De

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Book Description :

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Emery and Rimoin s Essential Medical Genetics

Emery and Rimoin s Essential Medical Genetics Book
Author : David L. Rimoin,Reed E. Pyeritz,Bruce Korf
Publisher : Elsevier
Release : 2013-05-15
ISBN : 0124169821
Language : En, Es, Fr & De

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Book Description :

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

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

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2019-09-04
ISBN : 0128126809
Language : En, Es, Fr & De

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Book Description :

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. Offers pathways for diagnosis, prevention and disease management 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 Principles and Practice of Medical Genetics

Emery and Rimoin s Principles and Practice of Medical Genetics Book
Author : Alan E. H. Emery,David L. Rimoin
Publisher : Unknown
Release : 2002
ISBN : 9780443064340
Language : En, Es, Fr & De

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Book Description :

Download Emery and Rimoin s Principles and Practice of Medical Genetics book written by Alan E. H. Emery,David L. Rimoin, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

A Short History of Medical Genetics

A Short History of Medical Genetics Book
Author : Peter S. Harper
Publisher : Oxford University Press
Release : 2008
ISBN : 0195187504
Language : En, Es, Fr & De

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Book Description :

"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.

Medical Genetics

Medical Genetics Book
Author : Lynn B. Jorde,John C. Carey,Michael J. Bamshad,Raymond L. White
Publisher : Elsevier Masson
Release : 2003
ISBN : 9782842995751
Language : En, Es, Fr & De

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Book Description :

The emphasis of this book is on those aspects of medical genetics most useful in a modern clinical practice. Clinical aspects of molecular genetics research have been incorporated throughout the spectrum of genetically determined diseases.

Emery s Elements of Medical Genetics

Emery s Elements of Medical Genetics Book
Author : Robert F. Mueller,Ian D. Young,Alan E. H. Emery
Publisher : Unknown
Release : 2001
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Genes Behavior and the Social Environment

Genes  Behavior  and the Social Environment Book
Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Publisher : National Academies Press
Release : 2006-12-07
ISBN : 0309101964
Language : En, Es, Fr & De

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Book Description :

Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.

Medical Genetics at a Glance

Medical Genetics at a Glance Book
Author : Dorian J. Pritchard,Bruce R. Korf
Publisher : John Wiley & Sons
Release : 2013-09-23
ISBN : 0470656549
Language : En, Es, Fr & De

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Book Description :

Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.

Practical Guide to Transcranial Direct Current Stimulation

Practical Guide to Transcranial Direct Current Stimulation Book
Author : Helena Knotkova,Michael A. Nitsche,Marom Bikson,Adam J. Woods
Publisher : Springer
Release : 2019-01-23
ISBN : 3319959484
Language : En, Es, Fr & De

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Book Description :

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.

Elements of Medical Genetics

Elements of Medical Genetics Book
Author : Anonim
Publisher : Unknown
Release : 1971
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Elements of Medical Genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Persistent Forecasting of Disruptive Technologies

Persistent Forecasting of Disruptive Technologies Book
Author : National Research Council,Division on Engineering and Physical Sciences,Committee on Forecasting Future Disruptive Technologies
Publisher : National Academies Press
Release : 2010-02-15
ISBN : 0309116600
Language : En, Es, Fr & De

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Book Description :

Technological innovations are key causal agents of surprise and disruption. In the recent past, the United States military has encountered unexpected challenges in the battlefield due in part to the adversary's incorporation of technologies not traditionally associated with weaponry. Recognizing the need to broaden the scope of current technology forecasting efforts, the Office of the Director, Defense Research and Engineering (DDR&E) and the Defense Intelligence Agency (DIA) tasked the Committee for Forecasting Future Disruptive Technologies with providing guidance and insight on how to build a persistent forecasting system to predict, analyze, and reduce the impact of the most dramatically disruptive technologies. The first of two reports, this volume analyzes existing forecasting methods and processes. It then outlines the necessary characteristics of a comprehensive forecasting system that integrates data from diverse sources to identify potentially game-changing technological innovations and facilitates informed decision making by policymakers. The committee's goal was to help the reader understand current forecasting methodologies, the nature of disruptive technologies and the characteristics of a persistent forecasting system for disruptive technology. Persistent Forecasting of Disruptive Technologies is a useful text for the Department of Defense, Homeland Security, the Intelligence community and other defense agencies across the nation.

Clinical Cardiogenetics

Clinical Cardiogenetics Book
Author : H.F. Baars,P.A.F.M. Doevendans,J.J. van der Smagt
Publisher : Springer Science & Business Media
Release : 2010-12-25
ISBN : 1849964718
Language : En, Es, Fr & De

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Book Description :

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?

Genomics and Proteomics

Genomics and Proteomics Book
Author : Devarajan Thangadurai,Jeyabalan Sangeetha
Publisher : CRC Press
Release : 2015-06-09
ISBN : 149872311X
Language : En, Es, Fr & De

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Book Description :

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,

Optical Devices in Ophthalmology and Optometry

Optical Devices in Ophthalmology and Optometry Book
Author : Michael Kaschke,Karl-Heinz Donnerhacke,Michael Stefan Rill
Publisher : John Wiley & Sons
Release : 2014-03-17
ISBN : 3527410686
Language : En, Es, Fr & De

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Book Description :

Optical Devices in Ophthalmology and Optometry Medical technology is a fast growing field. Optical Devices in Ophthalmology and Optometry gives a comprehensive review of modern optical technologies in ophthalmology and optometry alongside their clinical deployment. It bridges the technology and clinical domains and will be suitable in both technical and clinical environments. The book introduces and develops basic physical methods (in optics, photonics, and metrology) and their applications in the design of optical systems for use in ophthalmic medical technology. Medical applications described in detail demonstrate the advantage of utilizing optical-photonic methods. Exercises and solutions for each chapter help understand and apply basic principles and methods. From the contents: Structure and Function of the Human Eye Optics of the Human Eye Visual Disorders and Major Eye Diseases Introduction to Ophthalmic Diagnosis and Imaging Determination of the Refractive Status of the Eye Optical Visualization, Imaging, and Structural Analysis Optical Coherence Methods for Three-Dimensional Visualization and Structural Analysis Functional Diagnostics Laser???Tissue Interaction Laser Systems for Treatment of Eye Diseases and Refractive Errors

Principles of Proteomics

Principles of Proteomics Book
Author : Richard Twyman
Publisher : Garland Science
Release : 2004-05-01
ISBN : 0203507398
Language : En, Es, Fr & De

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Book Description :

Principles of Proteomics is designed specifically to explain the different stages of proteomic analysis, their complexities and their jargon to students and researchers in a non-technical overview of the field. The author describes the broad range of problems which proteomics can address, including structural proteomics, interaction proteomics, protein modification analysis and functional proteomics. Methodologies are described in user-friendly language, from the more traditional two-dimensional gel electrophoresis to the new developments in protein chip technologies. These are well presented in the context of overall strategies which can be adopted to address the different aspects of large-scale protein analysis.

Maxillofacial Cone Beam Computed Tomography

Maxillofacial Cone Beam Computed Tomography Book
Author : William C. Scarfe,Christos Angelopoulos
Publisher : Springer
Release : 2018-01-04
ISBN : 3319620614
Language : En, Es, Fr & De

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Book Description :

The book provides a comprehensive description of the fundamental operational principles, technical details of acquiring and specific clinical applications of dental and maxillofacial cone beam computed tomography (CBCT). It covers all clinical considerations necessary for optimal performance in a dental setting. In addition overall and region specific correlative imaging anatomy of the maxillofacial region is described in detail with emphasis on relevant disease. Finally imaging interpretation of CBCT images is presented related to specific clinical applications. This book is the definitive resource for all who refer, perform, interpret or use dental and maxillofacial CBCT including dental clinicians and specialists, radiographers, ENT physicians, head and neck, and oral and maxillofacial radiologists.

Terrestrial Ecosystem Ecology

Terrestrial Ecosystem Ecology Book
Author : Göran I. Ågren,Folke O. Andersson
Publisher : Cambridge University Press
Release : 2012
ISBN : 1107011078
Language : En, Es, Fr & De

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Book Description :

Explains the structure, function and dynamics of terrestrial ecosystems and demonstrates the application of ecosystem ecology to current environmental problems.

Essentials of Medical Genetics for Health Professionals

Essentials of Medical Genetics for Health Professionals Book
Author : Laura M. Gunder McClary,Gunder,Scott A. Martin
Publisher : Jones & Bartlett Publishers
Release : 2010-09-17
ISBN : 1449618081
Language : En, Es, Fr & De

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Book Description :

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.