Emery And Rimoin S Essential Medical Genetics
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Emery And Rimoin S Essential Medical Genetics
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Author : David L. Rimoin
language : en
Publisher: Elsevier
Release Date : 2013-05-15
Emery And Rimoin S Essential Medical Genetics written by David L. Rimoin and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-05-15 with Science categories.
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
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Author : David L. Rimoin
language : en
Publisher:
Release Date : 2007
Emery And Rimoin S Principles And Practice Of Medical Genetics written by David L. Rimoin and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Genetic disorders categories.
"For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.
Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics
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Author : Reed E. Pyeritz
language : en
Publisher: Academic Press
Release Date : 2021-11-02
Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics written by Reed E. Pyeritz and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-11-02 with Science categories.
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
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Author : Alan E. H. Emery
language : en
Publisher:
Release Date : 1998-04-01
Emery And Rimoin S Principles And Practice Of Medical Genetics written by Alan E. H. Emery and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998-04-01 with Medical categories.
Emery And Rimoin S Principles And Practice Of Medical Genetics
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Author : Alan E. H. Emery
language : en
Publisher:
Release Date : 2007
Emery And Rimoin S Principles And Practice Of Medical Genetics written by Alan E. H. Emery and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Electronic books categories.
"For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.
Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics
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Author : Reed E. Pyeritz
language : en
Publisher: Academic Press
Release Date : 2023-12-01
Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics written by Reed E. Pyeritz and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-12-01 with Medical categories.
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 in medicine more broadly. In Developmental Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of developmental 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 healthcare professionals will find new and fully revised chapters on human developmental genetics as well as the genetics of sexual development; clefting, dental, and craniofacial syndromes; craniosynostosis; rasopathies; sex-chromosome abnormalities; and autosomal deletions among other disorders. 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
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Author : Reed E. Pyeritz
language : en
Publisher: Elsevier
Release Date : 2023-12-01
Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics written by Reed E. Pyeritz and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-12-01 with Medical categories.
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. This updated 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 related to applications of medical genetics across the full spectrum of inherited disorders and applications in medicine more broadly. Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included. Revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to developmental disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students and health professionals with an in-depth examination of the genetic basis of a range of developmental disorders, including clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics Presents a robust companion website that offers further teaching tools and links to outside resources and articles
Genetic And Cultural Evolution Of Cooperation
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Author : Peter Hammerstein
language : en
Publisher: MIT Press
Release Date : 2003
Genetic And Cultural Evolution Of Cooperation written by Peter Hammerstein and has been published by MIT Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Business & Economics categories.
Table of contents
Emery And Rimoin S Principles And Practice Of Medical Genetics
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Author :
language : en
Publisher:
Release Date : 2002
Emery And Rimoin S Principles And Practice Of Medical Genetics written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with categories.
Clinical Cardiogenetics
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Author : H.F. Baars
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-12-25
Clinical Cardiogenetics written by H.F. Baars and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-12-25 with Medical categories.
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?