June 20, 2021

Download Ebook Free EMERY AND RIMOIN’S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS

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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release Date : 2020-09-30
Category : Medical
Total pages :790
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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

Emery and Rimoin's Essential Medical Genetics

Emery and Rimoin's Essential Medical Genetics
Author : David L. Rimoin,Reed E. Pyeritz,Bruce Korf
Publisher : Elsevier
Release Date : 2013-05-15
Category : Science
Total pages :646
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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
Author : Reed E Pyeritz,Bruce R Korf,Wayne W Grody
Publisher : Academic Press
Release Date : 2021-11
Category :
Total pages :129
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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.

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

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Author : Reed E Pyeritz,Bruce R Korf,Wayne W Grody
Publisher : Academic Press
Release Date : 2019-10-15
Category :
Total pages :500
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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

Emery and Rimoin's Principles and Practice of Medical Genetics
Author : Alan E. H. Emery,David L. Rimoin
Publisher : Unknown
Release Date : 2002
Category : Medical genetics
Total pages :4388
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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
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release Date : 2021-11-15
Category : Science
Total pages :384
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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. Genomic Testing and Therapeutics thoroughly examines genomic testing techniques and technologies as applied in clinical diagnostics, prognosis, and personalized management of inherited and somatic disorders. 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. 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. 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 supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website 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
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release Date : 2018-07-01
Category : Medical
Total pages :448
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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

Principles and Practice of Medical Genetics

Principles and Practice of Medical Genetics
Author : David L. Rimoin,J. Michael Connor,Reed E. Pyeritz,Bruce R. Korf
Publisher : Churchill Livingstone
Release Date : 2006
Category :
Total pages :3637
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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.

Robbins Pathologic Basis of Disease

Robbins Pathologic Basis of Disease
Author : Ramzi S. Cotran,Vinay Kumar,Tucker Collins,Abul K. Abbas,Stanley Leonard Robbins
Publisher : W B Saunders Company
Release Date : 1999
Category : Medical
Total pages :1425
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Presenting the latest edition of this popular, comprehensive and practical text of pathology. Written with great clarity for easy readability, this reference offers detailed discussions of genetic disorders, cellular injury and death, neoplasia, the skeletal system and soft tissue tumors, and much more. Completely revised and updated, this edition is even more user-friendly with the use of text boxes for key topics in each chapter and a new full-color design. Features 1200 excellent 4-color illustrations!

Cancer Prevention, Detection, and Control

Cancer Prevention, Detection, and Control
Author : Kathleen Jennings-Dozier,Suzanne M. Mahon
Publisher : Unknown
Release Date : 2002
Category : Medical
Total pages :1043
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This comprehensive text serves as a reference to the latest development in the field of cancer detection and prevention. Issues covered range from how diet affects incidence of the disease to the nurse's role in advancing the cancer control agenda. This comprehensive, educational resource is perfect for those in undergraduate and graduate programs, yet also serves as a practical guide in clinical settings.

Genome Research

Genome Research
Author : Anonim
Publisher : Unknown
Release Date : 2005
Category : DNA polymerases
Total pages :129
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Practical Paediatrics

Practical Paediatrics
Author : Maxwell James Robinson,Don M. Roberton
Publisher : Unknown
Release Date : 1998
Category : Medical
Total pages :809
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The newest edition of this increasingly popular introductory text now offers even more coverage of childhood disease. Information is presented in a real life context where the social determinants of illness are examined as well as the genetic origins. With new contributors, redesigned text, and updated content, this text provides a new approach to problem-based learning.

Technology Review

Technology Review
Author : Anonim
Publisher : Unknown
Release Date : 1997
Category : Technology
Total pages :129
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Journal of Medical Genetics

Journal of Medical Genetics
Author : Anonim
Publisher : Unknown
Release Date : 1989
Category : Genetics
Total pages :129
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Brunner & Suddarth's Textbook of Medical-surgical Nursing

Brunner & Suddarth's Textbook of Medical-surgical Nursing
Author : Suzanne C. Smeltzer,Lillian Sholtis Brunner,Doris Smith Suddarth,Brenda G. Bare,Janice L. Hinkle
Publisher : Lippincott Raven
Release Date : 2008
Category : Medical
Total pages :2739
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Focusing on health promotion, this book provides coverage of patients with chronic illness and disabilities. It includes an accompanying CD-ROM which features over 3,500 NCLEX [registered]-style questions and three-dimensional animations that demonstrate disease processes.