November 27, 2020

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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 : 2020-11-01
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 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

Emery and Rimoin's Principles and Practice of Medical Genetics
Author : David L. Rimoin,Alan E. H. Emery
Publisher : Churchill Livingstone
Release Date : 2007
Category : Medical
Total pages :3871
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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
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: Disorders of fatty acid transport and mitochondrial oxidation

Emery and Rimoin's Principles and Practice of Medical Genetics: Disorders of fatty acid transport and mitochondrial oxidation
Author : Anonim
Publisher : Unknown
Release Date : 2007
Category : Medical genetics
Total pages :30
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Genomic Medicine

Genomic Medicine
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford University Press (UK)
Release Date : 2014
Category : Medical
Total pages :814
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Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
Publisher : OUP USA
Release Date : 2011-11-11
Category : Medical
Total pages :634
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Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Human Gene Mutation

Human Gene Mutation
Author : David N. Cooper,Michael Krawczak
Publisher : Taylor & Francis
Release Date : 1995
Category : Science
Total pages :412
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Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

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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Bioarrays

Bioarrays
Author : Krishnarao Appasani
Publisher : Springer Science & Business Media
Release Date : 2007-10-04
Category : Science
Total pages :269
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This book provides an integrated collection of timely articles on the use of bioarray techniques in the fields of biotechnology and molecular medicine. It is the first book to comprehensively integrate molecular diagnostics and molecular pathology. This book serves as an indispensable reference for graduate students, post-docs, and professors as well as an explanatory analysis for executives and scientists in biotechnology and pharmaceutical companies.

Elements of Medical Genetics

Elements of Medical Genetics
Author : Alan E. H. Emery
Publisher : Unknown
Release Date : 1975
Category : Human genetics
Total pages :245
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Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment
Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Publisher : National Academies Press
Release Date : 2006-12-07
Category : Social Science
Total pages :384
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Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.

Medical Genetics at a Glance

Medical Genetics at a Glance
Author : Dorian J. Pritchard,Bruce R. Korf
Publisher : John Wiley & Sons
Release Date : 2013-07-08
Category : Medical
Total pages :232
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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.

From Cells to Souls, and Beyond

From Cells to Souls, and Beyond
Author : Malcolm A. Jeeves
Publisher : Wm. B. Eerdmans Publishing
Release Date : 2004
Category : Religion
Total pages :252
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For more than a decade developments in science have prompted wide-ranging discussions about human nature. Gone are the days when this subject was the preserve of theologians and philosophers; today the fields of genetics and neuroscience are shifting attention to the "biological basis of human nature. This engaging book takes readers straight to the intersection of religion and science, exploring what new scientific knowledge does and does not say about religious views on personhood. Written by an international, interdisciplinary team of scholars sponsored by the John Templeton Foundation, "From Cells to Souls -- and Beyond examines such questions as personal identity, the meaning of "human," the mind-body relationship, and subjective spiritual experience. Each topic is discussed against the backdrop of biblical theology with the relevant science made clear. The result is a fresh interpretation of the Christian doctrine of humankind true to both science and Scripture. Contributors: Diogenes Allen Warren S. Brown Gaius Davies Lindon Eaves Joel B. Green Malcolm Jeeves D. Gareth Jones David Parkes C. Michael Steel Alan J. Torrance Glenn Weaver Michael Welker Philip H. Wiebe

Thompson & Thompson Genetics in Medicine

Thompson & Thompson Genetics in Medicine
Author : Robert L. Nussbaum,Roderick R. McInnes,Huntington F. Willard
Publisher : Elsevier Health Sciences
Release Date : 2016-01-01
Category : Medical
Total pages :546
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Originally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson.