December 4, 2020

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 : 2020-11-01
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 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

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.

Oxford Desk Reference

Oxford Desk Reference
Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publisher : Oxford University Press, USA
Release Date : 2005
Category : Medical
Total pages :708
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Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Principles of Clinical Genetics

Principles of Clinical Genetics
Author : Yogesh Ashok Sontakke
Publisher : JP Medical Ltd
Release Date : 2017-11-30
Category : Medical
Total pages :136
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This book is a practical guide to the field of genetics for undergraduate medical students. Beginning with a general overview, the following sections guide students through topics such as chromosomes, DNA structure, inheritance patterns, and metabolism, to cancer genetics, gene therapy and stem cell therapy. The text is enhanced by flow charts and illustrations and most sections feature questions to assist understanding and revision. The book concludes with ten annexures covering exam-related topics such as DNA fingerprinting, twins, immunogenetics, cloning, and more. A free poster summarising key facts of clinical genetics is provided with the book. Key points Practical guide to genetics for undergraduate medical students Each chapter features questions to assist revision Ten annexures cover exam-related topics Includes free poster summarising key facts of clinical genetics

Microbial Forensics

Microbial Forensics
Author : Bruce Budowle,Steven E. Schutzer,Stephen A. Morse
Publisher : Academic Press
Release Date : 2019-11-30
Category : Law
Total pages :526
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Microbial Forensics, Third Edition, serves as a complete reference on the discipline, describing the advances, challenges and opportunities that are integral in applying science to help solve future biocrimes. New chapters include: Microbial Source Tracking, Clinical Recognition, Bioinformatics, and Quality Assurance. This book is intended for a wide audience, but will be indispensable to forensic scientists and researchers interested in contributing to the growing field of microbial forensics. Biologists and microbiologists, the legal and judicial system, and the international community involved with Biological Weapons Treaties will also find this volume invaluable. Presents new and expanded content that includes a statistical analysis of forensic data, legal admissibility and standards of evidence Discusses actual cases of forensic bioterrorism Includes contributions from editors and authors who are leading experts in the field, with primary experience in the application of this fast-growing discipline

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.

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.

Nanopore Sequencing: An Introduction

Nanopore Sequencing: An Introduction
Author : Branton Daniel,Deamer David W
Publisher : World Scientific
Release Date : 2019-04-09
Category : Science
Total pages :216
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This is an introductory text and laboratory manual to be used primarily in undergraduate courses. It is also useful for graduate students and research scientists who require an introduction to the theory and methods of nanopore sequencing. The book has clear explanations of the principles of this emerging technology, together with instructional material written by experts that describes how to use a MinION nanopore instrument for sequencing in research or the classroom.At Harvard University the book serves as a textbook and lab manual for a university laboratory course designed to intensify the intellectual experience of incoming undergraduates while exploring biology as a field of concentration. Nanopore sequencing is an ideal topic as a path to encourage students about the range of courses they will take in Biology by pre-emptively addressing the complaint about having to take a course in Physics or Maths while majoring in Biology. The book addresses this complaint by concretely demonstrating the range of topics — from electricity to biochemistry, protein structure, molecular engineering, and informatics — that a student will have to master in subsequent courses if he or she is to become a scientist who truly understands what his or her biology instrument is measuring when investigating biological phenomena.

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.

An Introduction to Genetic Engineering

An Introduction to Genetic Engineering
Author : Desmond S. T. Nicholl
Publisher : Cambridge University Press
Release Date : 1994-02-24
Category : Science
Total pages :182
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The author presents a basic introduction to the world of genetic engineering. Some twenty years have passed since the first recombinant DNA molecules were constructed at Stanford University. Genetic engineering is now a reality and this book simply and concisely describes to the student the full range of enabling technologies available. The book takes the reader through basic molecular biology through to chapters dealing with the principles behind working with nucleic acids, together with cloning strategies and the tools of the trade. The author discusses the applications of genetic engineering in a clear and engaging manner. The book is essential reading for first and second year undergraduates, as well as being of interest to sixth form students and their teachers. Medical students and general practitioners will also find this book useful for background information.

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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Principles of Gene Manipulation

Principles of Gene Manipulation
Author : R. W. Old,S. B. Primrose
Publisher : Univ of California Press
Release Date : 1981
Category : Genetic engineering
Total pages :214
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Mitochondria

Mitochondria
Author : Immo E. Scheffler
Publisher : John Wiley & Sons
Release Date : 2011-09-20
Category : Science
Total pages :480
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"This volume inspires. It certainly will be much appreciated by cell biologists all over the world." Quarterly Review of Biology, March 2009 This book is the eagerly awaited second edition of the best-selling Mitochondria, a book widely acknowledged as the first modern, truly comprehensive authored work on the important, scientifically fundamental topic of the cellular organelles known as mitochondria. This new edition brings readers completely up to date on the many significant findings that have occurred in the eight years since the book was first published. As in that seminal first edition, the second edition tackles the biochemistry, genetics, and pathology of mitochondria in different organisms. The new edition provides thorough updates of all literature concerning this vital organelle, its functions, ongoing research surrounding it, and its importance vis-à-vis a broad range of issues in cellular and molecular biology. The book includes detailed descriptions of current and developing technologies around mitochondrial research and discovery, and highlights subjects that are growing, such as the use of proteomics. This book is an invaluable resource for all geneticists, biologists, and educators in life sciences. It is also of interest for advanced students in genetics and molecular biology.