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Emery And Rimoins Principles And Practice Of Medical Genetics And Genomics

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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 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 : 2019-10-15
ISBN : 9780128125328
Language : En, Es, Fr & De

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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 detailed coverage in 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 this Volume, Cardiovascular, Respiratory, and Gastrointestinal Disorders, leading international contributors examine the genetics of cardiovascular, respiratory, and gastrointestinal disorders in-depth, with emphasis on understanding the genetic determinants of these disorders and identifying pathways for diagnosis, prevention, and disease management 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 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. 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 the health professionals and researchers. 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 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 : 2018-07-01
ISBN : 0128126825
Language : En, Es, Fr & De

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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 this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods 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 genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions. 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 fully addresses medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods. Provides genetic researchers, students, and health professionals with new and updated chapters on the genetic basis of and treatment pathways for red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions 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 and articles to stay up-to-date on the latest developments in the field

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 : Elsevier
Release : 2021-11-29
ISBN : 0128152362
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 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.

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
ISBN : 9780128125342
Language : En, Es, Fr & De

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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 this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods 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 genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions. 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.

Principles and Practice of Medical Genetics

Principles and Practice of Medical Genetics Book
Author : David L. Rimoin,J. Michael Connor,Reed E. Pyeritz,Bruce R. Korf
Publisher : Churchill Livingstone
Release : 2006
ISBN : 9780443068706
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 : 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

Veterinary Instruments and Equipment E Book

Veterinary Instruments and Equipment   E Book Book
Author : Teresa F. Sonsthagen
Publisher : Elsevier Health Sciences
Release : 2018-11-29
ISBN : 0323511279
Language : En, Es, Fr & De

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Book Description :

Learn the names and uses of veterinary instruments in details textbooks alone can't provide! Veterinary Instruments and Equipment: A Pocket Guide, 4th Edition shows hundreds of detailed, full-color photographs of instruments and describes how and when each is used. A flashcard-style format makes it easy to flip through the pages, so you will quickly become familiar with commonly used equipment. This new edition features updated photographs, new instruments, and an all-new appendix with the author’s recommended list of instruments essential for the most-common veterinary surgical kits, including ambulatory, orthopedic, and major surgery packs. Plus, an Evolve companion website includes instrument photographs that may be rotated 360 degrees, so you can zoom in to see close-ups of the different tips. Accompanying Evolve site uses an interactive format giving you the ability to conveniently study and learn instruments to which you’d normally have only limited access Instruments and equipment shown for common procedures for small and large animals, including bovine, equine, sheep, pigs, and goats, and include procedures such as dehorning, hoof care, castration, and teat and obstetrical procedures. Coverage of surgical instruments includes general instruments such as hemostats, forceps, and scissors, and describes orthopedic, ophthalmic, and dental instruments used in veterinary specialty surgeries. Coverage of restraint equipment includes proper restraint techniques for all species of large and small animals. Handy pocket size and spiral binding allows the book to lay flat or fold over so that only the instrument or description is visible. Accompanying Evolve site uses an interactive format giving students the ability to conveniently study and learn instruments to which they normally have only limited access. 400 high-quality color photographs help you to quickly become familiar with instruments. A flip book, flashcard format makes it easy for you to learn veterinary instruments and equipment. NEW! Thoroughly updated photographs throughout ensures you are studying the most up-to-date instruments on the market. NEW! Topics throughout the text include: Spay (Ovariohysterectomy) Packs Neuter (Orchiectomy) Surgical Pack Neuter (Orchiectomy) Surgical Pack General Surgical Pack Orthopedic Surgical Pack Ophthalmic Surgical Instruments Dental Prophylaxis Kit Dental Periodontal Extraction Kit

Advanced Physiology and Pathophysiology

Advanced Physiology and Pathophysiology Book
Author : Nancy Tkacs, PhD, RN,Linda Herrmann, PhD, RN, ACHPN, AGACNP-BC, GNP-BC, FAANP,Randall Johnson, PhD, RN
Publisher : Springer Publishing Company
Release : 2020-03-26
ISBN : 0826177085
Language : En, Es, Fr & De

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Book Description :

Note to Readers: Publisher does not guarantee quality or access to any included digital components if book is purchased through a third-party seller. Specifically designed for future healthcare providers who will diagnose, manage, and prescribe This advanced physiology and pathophysiology text is designed to address the specific learning needs of future nurse practitioners, physician assistants, and other advanced healthcare providers caring for patients across the lifespan. Focusing on practical applications of physiology, it facilitates in-depth understanding of important pathophysiological concepts as they relate to major disorders commonly seen in clinical practice and includes comprehensive pediatric and geriatric considerations. This knowledge is crucial to providing the foundation required to be an informed and confident clinical decision maker. The author team includes experienced clinicians and educators: nurses and nurse practitioners, physician assistants, doctors of pharmacy, physicians, and basic scientists. This collaboration has produced a text that carefully details and richly illustrates the cellular structure and function of each organ system and mechanisms of associated major clinical disorders. Uniquely interweaving aspects of organ function during healthy states with disease-associated changes, the text emphasizes and extends the basic science foundation to practical clinical applications. The text promotes a deep understanding of cellular function in health and disease that provides the bedrock knowledge required to master pharmacology for prescriptive practice. Equally important, the solid foundation of applied pathophysiological mechanisms offered in this text prepares the student clinician to care for patients with a broad variety of disorders. This resource not only provides a deep dive into pathophysiology, but it also examines why patients often present with particular symptoms, the rationale for ordering specific diagnostic tests and interpretation of results, and common management strategies that proceed from the underlying pathophysiology. Key Features: Designed explicitly to build a foundation for pharmacology and clinical courses that lead to successful clinical practice and prescribing Includes comprehensive lifespan considerations with key insights from specialists in pediatric and geriatric pathophysiology Provides a complete chapter on the basic principles of genetics and genomics with coverage of genetic variations, assessment, and genomics woven throughout the book Integrates thought questions and case studies to promote discussion and synthesis of information Offers a unique Bridge to Clinical Practice in each chapter to translate science to patient care Includes more than 500 images to illustrate complex scientific concepts Summarizes the contents succinctly with handy key points at the end of each chapter Provides access to the fully searchable ebook, including student ancillaries on Springer Publishing ConnectTM

Merenstein Gardner s Handbook of Neonatal Intensive Care E Book

Merenstein   Gardner s Handbook of Neonatal Intensive Care   E Book Book
Author : Sandra Lee Gardner,Brian S. Carter,Mary I Enzman-Hines,Susan Niermeyer
Publisher : Elsevier Health Sciences
Release : 2020-02-05
ISBN : 0323570917
Language : En, Es, Fr & De

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Book Description :

Co-authored by an interprofessional collaborative team of physicians and nurses, Merenstein & Gardner’s Handbook of Neonatal Intensive Care, 9th Edition is the leading resource for interprofessional, collaborative care of critically ill newborns. It offers comprehensive coverage with a unique interprofessional collaborative approach and a real-world perspective that make it a practical guide for both nurses and physicians. The new ninth edition features a wealth of expanded content on delivery-room care; new evidence-based care "bundles"; palliative care in the NICU; interprofessional collaborative care of parents with depression, grief, and complicated grief; and new pain assessment tools. Updated high-quality references have also been reintegrated into the book, making it easier for clinicians to locate research evidence and standards of care with minimal effort. These additions, along with updates throughout, ensure that clinicians are equipped with the very latest clinical care guidelines and practice recommendations — all in a practical quick-reference format for easy retrieval and review. UNIQUE! Core author team of two physicians and two nurses gives this internationally recognized reference a true interprofessional collaborative approach that is unmatched by any other resource. Consistent organization within clinical chapters include Physiology/Pathophysiology, Etiology, Prevention, Data Collection (History, Signs and Symptoms, and Laboratory Data), Treatment/Intervention, Complications, and Parent Teaching sections. UNIQUE! Color-highlighted point-of-care clinical content makes high-priority clinical content quick and easy to find. UNIQUE! Parent Teaching boxes outline the relevant information to be shared with a patient’s caregivers. Critical Findings boxes outline symptoms and diagnostic findings that require immediate attention to help the provider prioritize assessment data and steps in initial care. Case studies demonstrate how to apply essential content to realistic clinical scenarios for application-based learning. NEW! Updated content throughout reflects the latest evidence-based practice, national and international guidelines, and current protocols for interprofessional collaborative practice in the NICU. NEW! Up-to-date, high-quality references are now reintegrated into the text for quick retrieval, making it easier for clinicians to locate research evidence and standards of care with minimal effort. NEW! Expanded content on delivery-room care includes the impact of staffing on quality of care, delayed cord clamping, resuscitation, and more. NEW! Coverage of the new evidence-based care "bundles" keeps clinicians up to date on new guidelines that have demonstrated improved outcomes of very preterm infants. NEW! Coverage of new pain assessment tools equips NICU providers with essential resources for maintaining patient comfort. NEW! Expanded coverage of palliative care in the NICU provides the tools needed to ensure patient comfort. NEW! Expanded coverage of interprofessional collaborative care of parents with depression, grief, and complicated grief prepares clinicians for this essential area of practice.

Victor McKusick and the History of Medical Genetics

Victor McKusick and the History of Medical Genetics Book
Author : Krishna R. Dronamraju,Clair A. Francomano
Publisher : Springer Science & Business Media
Release : 2012-06-08
ISBN : 1461416779
Language : En, Es, Fr & De

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Book Description :

This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.

Genomics and Health in the Developing World

Genomics and Health in the Developing World Book
Author : Dhavendra Kumar
Publisher : Oxford University Press
Release : 2012-06-14
ISBN : 0195374754
Language : En, Es, Fr & De

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Book Description :

This book is designed to be the first major text to discuss advances in medical genetics in the developing world.

Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Implementing and Evaluating Genomic Screening Programs in Health Care Systems Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publisher : National Academies Press
Release : 2018-05-16
ISBN : 0309473446
Language : En, Es, Fr & De

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Book Description :

Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.

Cytogenomics

Cytogenomics Book
Author : Thomas Liehr
Publisher : Academic Press
Release : 2021-05-25
ISBN : 0128235802
Language : En, Es, Fr & De

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Book Description :

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

Harper s Practical Genetic Counselling Eighth Edition

Harper s Practical Genetic Counselling  Eighth Edition Book
Author : Angus Clarke
Publisher : CRC Press
Release : 2019-09-30
ISBN : 1000712621
Language : En, Es, Fr & De

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Book Description :

Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders. Fully revised by its new author Angus Clarke, and with additional input from colleagues, this eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genomebased investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice. The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other healthcare professionals, counsellors, social scientists, ethicists and genetics laboratory staff.

Medical Genetics at a Glance

Medical Genetics at a Glance Book
Author : Dorian J. Pritchard,Bruce R. Korf
Publisher : John Wiley & Sons
Release : 2013-07-08
ISBN : 1118689011
Language : En, Es, Fr & De

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Book Description :

Medical Genetics at a Glance covers the core scientificprinciples necessary for an understanding of medical genetics andits clinical applications, while also considering the socialimplications of genetic disorders. This third edition has been fully updated to include the latestdevelopments in the field, covering the most common geneticanomalies, their diagnosis and management, in clear, concise andrevision-friendly sections to complement any health sciencecourse. Medical Genetics at a Glance now has a completely revisedstructure, to make its content even more accessible. Other featuresinclude: • Three new chapters on Gene Identification, The Biologyof Cancer, and Genomic Approaches to Cancer • A much extended treatment of BiochemicalGenetics • A completely revised chapter on The Cell Cycle,explaining principles of biochemistry and genetics which arefundamental to understanding cancer causation • Two new chapters on Cardiac DevelopmentalPathology • An extended Case Studies section Providing a broad understanding of one of the most rapidlyprogressing topics in medicine, Medical Genetics at a Glanceis perfect for students of medicine, molecular biology, geneticsand genetic counselling, and is a previous winner of a BMAAward.

Public Health Nursing E Book

Public Health Nursing   E Book Book
Author : Marcia Stanhope,Jeanette Lancaster
Publisher : Elsevier Health Sciences
Release : 2015-09-16
ISBN : 0323321542
Language : En, Es, Fr & De

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Book Description :

Prepare for a successful career as a community/public health nurse! Public Health Nursing: Population-Centered Health Care in the Community, 9th Edition provides up-to-date information on issues that impact public health nursing, such as infectious diseases, natural and man-made disasters, and health care policies affecting individuals, families, and communities. Real-life scenarios show examples of health promotion and public health interventions. New to this edition is an emphasis on QSEN skills and an explanation of the influence of the Affordable Care Act on public health. Written by well-known nursing educators Marcia Stanhope and Jeanette Lancaster, this comprehensive, bestselling text is ideal for students in both BSN and Advanced Practice Nursing programs. Evidence-Based Practice and Cutting Edge boxes illustrate the use and application of the latest research findings in public/community health nursing. Healthy People 2020 boxes highlight goals and objectives for promoting the nation’s health and wellness over the next decade. Levels of Prevention boxes identify specific nursing interventions at the primary, secondary, and tertiary levels. Practice Application scenarios help you apply chapter content to the practice setting by analyzing case situations and answering critical thinking questions. Linking Content to Practice boxes provide examples of the nurse’s role in caring for individuals, families, and populations in community health settings. Unique! Separate chapters on healthy cities, the Minnesota Intervention Wheel, and nursing centers describe different approaches to community health initiatives. Community/Public Health Nursing Online consists of 14 modules that bring community health situations to life, each including a reading assignment, case scenarios with learning activities, an assessment quiz, and critical thinking questions. Sold separately. NEW! Coverage of health care reform discusses the impact of The Patient Protection and Affordable Care Act of 2010 (ACA) on public health nursing. NEW! Focus on Quality and Safety Education for Nurses boxes give examples of how quality and safety goals, knowledge, competencies and skills, and attitudes can be applied to nursing practice in the community.

Public Health Nursing

Public Health Nursing Book
Author : Marcia Stanhope,Jeanette Lancaster
Publisher : Elsevier Health Sciences
Release : 2015-10-07
ISBN : 0323321534
Language : En, Es, Fr & De

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Book Description :

Prepare for a successful career as a community/public health nurse! Public Health Nursing: Population-Centered Health Care in the Community, 9th Edition provides up-to-date information on issues that impact public health nursing, such as infectious diseases, natural and man-made disasters, and health care policies affecting individuals, families, and communities. Real-life scenarios show examples of health promotion and public health interventions. New to this edition is an emphasis on QSEN skills and an explanation of the influence of the Affordable Care Act on public health. Written by well-known nursing educators Marcia Stanhope and Jeanette Lancaster, this comprehensive, bestselling text is ideal for students in both BSN and Advanced Practice Nursing programs. Evidence-Based Practice and Cutting Edge boxes illustrate the use and application of the latest research findings in public/community health nursing. Healthy People 2020 boxes highlight goals and objectives for promoting the nation's health and wellness over the next decade. Levels of Prevention boxes identify specific nursing interventions at the primary, secondary, and tertiary levels. Practice Application scenarios help you apply chapter content to the practice setting by analyzing case situations and answering critical thinking questions. Linking Content to Practice boxes provide examples of the nurse's role in caring for individuals, families, and populations in community health settings. Unique! Separate chapters on healthy cities, the Minnesota Intervention Wheel, and nursing centers describe different approaches to community health initiatives. Community/Public Health Nursing Online consists of 14 modules that bring community health situations to life, each including a reading assignment, case scenarios with learning activities, an assessment quiz, and critical thinking questions. Sold separately. NEW! Coverage of health care reform discusses the impact of The Patient Protection and Affordable Care Act of 2010 (ACA) on public health nursing. NEW! Focus on Quality and Safety Education for Nurses boxes give examples of how quality and safety goals, knowledge, competencies and skills, and attitudes can be applied to nursing practice in the community.

Innovations in Service Delivery in the Age of Genomics

Innovations in Service Delivery in the Age of Genomics Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2009-05-11
ISBN : 0309177588
Language : En, Es, Fr & De

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Book Description :

New discoveries in genomics-that is, the study of the entire human genome-are changing how we diagnose and treat diseases. As the trend shifts from genetic testing largely being undertaken for rare genetic disorders to, increasingly, individuals being screened for common diseases, general practitioners, pediatricians, obstetricians/gynecologists, and other providers need to be knowledgeable about and comfortable using genetic information to improve their patients' health. To address these changes, the Roundtable on Translating Genomic-Based Research for Health held the public workshop "Innovations in Service Delivery in the Age of Genomics" on July 27, 2008.