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Author: I. Rasko Publisher: Springer Science & Business Media ISBN: 9780412373404 Category : Medical Languages : en Pages : 436
Book Description
This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field.
Author: I. Rasko Publisher: Springer Science & Business Media ISBN: 9780412373404 Category : Medical Languages : en Pages : 436
Book Description
This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field.
Author: Robert L. Nussbaum Publisher: Elsevier Health Sciences ISBN: 0323392067 Category : Medical Languages : en Pages : 561
Book Description
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. - Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. - Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. - Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. - Immerse yourself in updated graphics, full-color text, illustrations, line diagrams, and clinical photos of genetic diseases. - Explore the latest genetic content available in order to remain up to date on the most current trends in the field. - Take advantage of a double-page clinical case study section that demonstrates and reinforces general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling. - Enhance your critical thinking skills and better retain information. Each chapter ends with up to 5 quick genetic "problems" related to what has just been reviewed, with answers provided in the back of the book. - Student Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices. You'll also access USMLE-style and multiple choice questions.
Author: Peter S. Harper Publisher: Oxford University Press ISBN: 0195187504 Category : Language Arts & Disciplines Languages : en Pages : 570
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.
Author: Israel Gomy Publisher: BoD – Books on Demand ISBN: 183968142X Category : Medical Languages : en Pages : 106
Book Description
The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.
Author: Gary D. Hammer Publisher: McGraw Hill Professional ISBN: 0071806016 Category : Medical Languages : en Pages : 779
Book Description
A full-color, case-based review of the essentials of pathophysiology--covering all major organs and systems The goal of this trusted text is to introduce you to clinical medicine by reviewing the pathophysiologic basis of 120 diseases (and associated signs and symptoms) commonly encountered in medical practice. The authors, all experts in their respective fields, have provided a concise review of relevant normal structure and function of each body system, followed by a description of the pathophysiologic mechanisms that underlie several common diseases related to that system. Each chapter of Pathophysiology of Disease concludes with a collection of case studies and questions designed to test your understanding of the pathophysiology of each clinical entity discussed. These case studies allow you to apply your knowledge to specific clinical situations. Detailed answers to each case study question are provided at the end of the book. This unique interweaving of physiological and pathological concepts will put you on the path toward thinking about signs and symptoms in terms of their pathophysiologic basis, giving you an understanding of the "why" behind illness and treatment. Features 120 case studies (9 new) provide an opportunity for you to test your understanding of the pathophysiology of each clinical entity discussed Checkpoint questions provide review and appear in every chapter Updates and revisions throughout this new edition reflect the latest research and developments Numerous tables and diagrams encapsulate important information Updated references for each chapter topic Pathophysiology of Disease is a true must-have resource for medical students preparing for the USMLE Step 1 exam, as well as students engaged in their clerkship studies. House officers, nurses, nurse practitioners, physicians’ assistants, and allied health practitioners will find its concise presentation and broad scope a great help in facilitating their understanding of common disease entities.
Author: National Research Council Publisher: National Academies Press ISBN: 0309171431 Category : Social Science Languages : en Pages : 388
Book Description
What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.
Author: Institute of Medicine Publisher: National Academies Press ISBN: 0309224187 Category : Science Languages : en Pages : 354
Book Description
Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
Author: Tom Strachan Publisher: Taylor & Francis ISBN: 1317594304 Category : Medical Languages : en Pages : 545
Book Description
Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti
Author: Suzanne B. Cassidy Publisher: John Wiley & Sons ISBN: 1118210670 Category : Medical Languages : en Pages : 1678
Book Description
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Author: Reed E. Pyeritz Publisher: Academic Press ISBN: 0128126833 Category : Medical Languages : en Pages : 792
Book Description
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 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 and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. 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. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field
Author: I. Rasko
Author: I. Rasko
Author: Robert L. Nussbaum
Author: Peter S. Harper
Author: Israel Gomy
Author: Gary D. Hammer
Author: National Research Council
Author: Institute of Medicine
Author: Tom Strachan
Author: Suzanne B. Cassidy
Author: Reed E. Pyeritz