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Emery And Rimoins Principles And Practice Of Medical Genetics And Genomics 2

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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 Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2021-11-02
ISBN : 0128152370
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2019-09-04
ISBN : 0128126809
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Alan E. H. Emery,David L. Rimoin
Publisher : Unknown
Release : 2002
ISBN : 9780443064340
Language : En, Es, Fr & De

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Book Description :

Download Emery and Rimoin s Principles and Practice of Medical Genetics book written by Alan E. H. Emery,David L. Rimoin, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Medical Genetics

Medical Genetics Book
Author : Lynn B. Jorde,John C. Carey,Michael J. Bamshad,Raymond L. White
Publisher : Elsevier Masson
Release : 2003
ISBN : 9782842995751
Language : En, Es, Fr & De

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Book Description :

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.

Microbial Forensics

Microbial Forensics Book
Author : Bruce Budowle,Steven E. Schutzer,Stephen A. Morse
Publisher : Academic Press
Release : 2019-11-30
ISBN : 0128153806
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Dorian J. Pritchard,Bruce R. Korf
Publisher : John Wiley & Sons
Release : 2013-09-23
ISBN : 0470656549
Language : En, Es, Fr & De

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Book Description :

Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.

Clinical Cardiogenetics

Clinical Cardiogenetics Book
Author : H.F. Baars,P.A.F.M. Doevendans,J.J. van der Smagt
Publisher : Springer Science & Business Media
Release : 2010-12-25
ISBN : 1849964718
Language : En, Es, Fr & De

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Book Description :

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?

Emery and Rimoin s Principles and Practice of Medical Genetics

Emery and Rimoin s Principles and Practice of Medical Genetics Book
Author : David L. Rimoin,Alan E. H. Emery
Publisher : Churchill Livingstone
Release : 2007
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Principles of Proteomics

Principles of Proteomics Book
Author : Richard Twyman
Publisher : Garland Science
Release : 2004-05-01
ISBN : 0203507398
Language : En, Es, Fr & De

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Book Description :

Principles of Proteomics is designed specifically to explain the different stages of proteomic analysis, their complexities and their jargon to students and researchers in a non-technical overview of the field. The author describes the broad range of problems which proteomics can address, including structural proteomics, interaction proteomics, protein modification analysis and functional proteomics. Methodologies are described in user-friendly language, from the more traditional two-dimensional gel electrophoresis to the new developments in protein chip technologies. These are well presented in the context of overall strategies which can be adopted to address the different aspects of large-scale protein analysis.

A Short History of Medical Genetics

A Short History of Medical Genetics Book
Author : Peter S. Harper
Publisher : Oxford University Press
Release : 2008
ISBN : 0195187504
Language : En, Es, Fr & De

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Book Description :

"This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Genetics in Medicine

Genetics in Medicine Book
Author : James Scott Thompson,Margaret Wilson Thompson
Publisher : Philadelphia ; Toronto : W.B. Saunders
Release : 1973
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetics in Medicine book written by James Scott Thompson,Margaret Wilson Thompson, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Clinical Epidemiology

Clinical Epidemiology Book
Author : Diederick E. Grobbee,Arno W. Hoes
Publisher : Jones & Bartlett Publishers
Release : 2014-01-23
ISBN : 144967433X
Language : En, Es, Fr & De

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Book Description :

Now updated with new data and examples throughout, Clinical Epidemiology: Principles, Methods, and Applications for Clinical Research, Second Edition is a comprehensive resource that introduces the reader to the basics of clinical epidemiology and explores the principles and methods that can be used to obtain quantitative evidence on the effects of interventions and on the diagnosis, etiology, and prognosis of disease. The everyday challenges of clinical research and the quantitative knowledge required to practice medicine are also examined, making this book a valuable reference for both graduate and undergraduate students in medicine and related disciplines, as well as for professionals involved in the design and conduct of clinical research.

Essential Medical Genetics

Essential Medical Genetics Book
Author : Michael Connor,Malcolm Ferguson-Smith
Publisher : Wiley-Blackwell
Release : 1997-04-29
ISBN : 9780865426665
Language : En, Es, Fr & De

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Book Description :

Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.

Diagnostic Molecular Pathology

Diagnostic Molecular Pathology Book
Author : William B. Coleman,Gregory J. Tsongalis
Publisher : Academic Press
Release : 2016-10-05
ISBN : 0128011572
Language : En, Es, Fr & De

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Book Description :

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing is organized around disease types (genetic disease, infectious disease, neoplastic disease, among others). In each section, the authors provide background on disease mechanisms and describe how laboratory testing is built on knowledge of these mechanisms. Sections are dedicated to general methodologies employed in testing (to convey the concepts reflected in the methods), and specific description of how these methods can be applied and are applied to specific diseases are described. The book does not present molecular methods in isolation, but considers how other evidence (symptoms, radiology or other imaging, or other clinical tests) is used to guide the selection of molecular tests or how these other data are used in conjunction with molecular tests to make diagnoses (or otherwise contribute to clinical workup). In addition, final chapters look to the future (new technologies, new approaches) of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests. Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing contains exercises to test readers on their understanding of how molecular diagnostic tests are utilized and the value of the information that can be obtained in the context of the patient workup. Readers are directed to an ancillary website that contains supplementary materials in the form of exercises where decision trees can be employed to simulate actual clinical decisions. Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis, and classification in the clinical workup of a patient Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for prognostication of disease Features an ancillary website with self-testing exercises where decision trees can be employed to simulate actual clinical decisions Highlights new technologies and approaches of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests

Marks Basic Medical Biochemistry

Marks  Basic Medical Biochemistry Book
Author : Michael Lieberman,Alisa Peet
Publisher : LWW
Release : 2017-07-25
ISBN : 9781496324818
Language : En, Es, Fr & De

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Book Description :

Connect biochemistry to clinical practice! Marks' Basic Medical Biochemistry links biochemistry to physiology and pathophysiology, allowing students to apply fundamental concepts to the practice of medicine - from diagnosing patients to recommending effective treatments. Intuitively organized chapters center on hypothetical patient vignettes, highlighting the material's clinical applications; helpful icons allow for smooth navigation, making complex concepts easier to grasp. Full-color illustrations make chemical structures and biochemical pathways easy to visualize. Patient vignettes connect biochemistry to human health and disease. Clinical Notes explain patient signs or symptoms, and Method Notes relate biochemistry to the laboratory tests ordered during diagnosis. Clinical Comments link biochemical dynamics to treatment options and patient outcomes. Biochemical Comments explore directions for new research. Key Concepts and Summary Disease tables highlight the take-home messages in each chapter. Questions and answers at the end of each chapter - 470 total inside the book, with 560 more online - probe students' mastery of key concepts. Additional handy resources available online make it easy to review all diseases and all methods covered throughout the book and to find references for further information and study

Essentials of Medical Genetics for Health Professionals

Essentials of Medical Genetics for Health Professionals Book
Author : Laura M. Gunder McClary,Gunder,Scott A. Martin
Publisher : Jones & Bartlett Publishers
Release : 2010-09-17
ISBN : 1449618081
Language : En, Es, Fr & De

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Book Description :

Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank.

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics Book
Author : Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
Publisher : Academic Press
Release : 2022-01-18
ISBN : 0128139455
Language : En, Es, Fr & De

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Book Description :

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

ABC of Clinical Genetics

ABC of Clinical Genetics Book
Author : Helen M. Kingston
Publisher : BMJ Books
Release : 1997-06-04
ISBN : 9780727911018
Language : En, Es, Fr & De

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Book Description :

Genetics is now a part of everyday medicine, and the demand for genetic investigation and counselling is increasing. It is vital that all doctors are informed about the subject anf it's possibilities, but many are put off by the complex concepts involved With the help of many high quality illustrations, the ABC of Clinical Gentics explains in simple terms genetic mechanisms and analysis, and gives all of the clinical information necessary for doctors and other health professionals to advise patients on genetic disorders. It also discusses the implications of these diseases for relatives and the ethical human dilemmas involved. Topics include: Inheritance, estimation of risk, and detection of carriers Chromosomal disorders Genetics of common disorders Genitics of cancer Dysmorphology and teretogenesis Gene structure and function DNA analysis This second edition has been fully updated and has further chapters dealing with new aspects of inheritance and new Knowledge of molecular genetics of common disorders. It provides a simple but comprehensive introduction to clinical genetics for doctors, medical students, nurses and midwives.

Human Malformations and Related Anomalies

Human Malformations and Related Anomalies Book
Author : Roger E. Stevenson,Judith G. Hall
Publisher : Oxford University Press
Release : 2005-10-27
ISBN : 019974808X
Language : En, Es, Fr & De

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Book Description :

This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

Atlas of Metabolic Diseases Second edition

Atlas of Metabolic Diseases Second edition Book
Author : William Nyhan,Bruce Barshop,Pinar Ozand
Publisher : CRC Press
Release : 2005-08-26
ISBN : 144411459X
Language : En, Es, Fr & De

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Book Description :

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth