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
Publsiher: Academic Press
Total Pages: 318
Release: 2021-11-02
Genre: Science
ISBN: 9780128152379

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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
Author: Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publsiher: Academic Press
Total Pages: 594
Release: 2019-09-04
Genre: Medical
ISBN: 9780128126806

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

Emery and Rimoin s Principles and Practice of Medical Genetics

Emery and Rimoin s Principles and Practice of Medical Genetics
Author: David L. Rimoin,Alan E. H. Emery
Publsiher: Churchill Livingstone
Total Pages: 3871
Release: 2007
Genre: Medical
ISBN: UCLA:L0099470627

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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.

Emery and Rimoin s Essential Medical Genetics

Emery and Rimoin s Essential Medical Genetics
Author: David L. Rimoin,Reed E. Pyeritz,Bruce Korf
Publsiher: Elsevier
Total Pages: 646
Release: 2013-05-15
Genre: Science
ISBN: 9780124169821

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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

Emery and Rimoin s Principles and Practice of Medical Genetics
Author: Alan E. H. Emery,David L. Rimoin
Publsiher: Unknown
Total Pages: 4388
Release: 2002
Genre: Genetic disorders
ISBN: 0443064342

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Medical Genetics

Medical Genetics
Author: Lynn B. Jorde,John C. Carey,Michael J. Bamshad,Raymond L. White
Publsiher: Elsevier Masson
Total Pages: 363
Release: 2003
Genre: Medical
ISBN: 2842995759

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

Emery s Elements of Medical Genetics

Emery s Elements of Medical Genetics
Author: Robert F. Mueller,Ian D. Young,Alan E. H. Emery
Publsiher: Unknown
Total Pages: 372
Release: 2001
Genre: Medical
ISBN: UOM:39015053139039

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Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

Medical Genetics at a Glance

Medical Genetics at a Glance
Author: Dorian J. Pritchard,Bruce R. Korf
Publsiher: John Wiley & Sons
Total Pages: 232
Release: 2013-07-08
Genre: Medical
ISBN: 9781118689011

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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.