New Clinical Genetics

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New Clinical Genetics, fourth edition

Author : Andrew Read
Publisher : Scion Publishing Ltd
ISBN 13 : 1911510746
Total Pages : 470 pages
Book Rating : 4.9/5 (115 download)

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Book Synopsis New Clinical Genetics, fourth edition by : Andrew Read

Download or read book New Clinical Genetics, fourth edition written by Andrew Read and published by Scion Publishing Ltd. This book was released on 2020-10-23 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem

New Clinical Genetics

Author : Andrew P. Read
Publisher : Scion Publishing
ISBN 13 :
Total Pages : 452 pages
Book Rating : 4.:/5 (89 download)

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Book Synopsis New Clinical Genetics by : Andrew P. Read

Download or read book New Clinical Genetics written by Andrew P. Read and published by Scion Publishing. This book was released on 2007 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: "New Clinical Genetics" provides all those involved in medical genetics with a unique clinical guide based on post-genomic technologies. This first edition has been superseded by a new edition, launched October 2010.

Clinical Genetics

Author : Golder Wilson
Publisher : Wiley-Liss
ISBN 13 :
Total Pages : 500 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Clinical Genetics by : Golder Wilson

Download or read book Clinical Genetics written by Golder Wilson and published by Wiley-Liss. This book was released on 2000 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the advent of genetic engineering and mapping of the human genome, public awareness concerning the contributions that genetic disorders make to illness or death has increased significantly. The fields of human and medical genetics have continued to expand and offer new ways of understanding, preventing, and managing patients with genetic disorders. At the core of the genetic approach are the ideas of anticipation and prevention, which are essential for modern medical practice. Clinical Genetics: A Short Course explains the importance of being able to anticipate disease based on individual characteristics or a family history, and then providing the necessary measures to forestall further complications. Each informative chapter commences with a case presentation and an explanation of medical terms. As the book progresses and new concepts are introduced, each case is updated. Clinical Genetics clarifies that, although individual genetic disease may be rare, it is an inescapable part of medicine. Text contains: * Both basic principles and differential diagnosis and management * Case-oriented problems, including answers and solutions * Over 300 illustrations to clarify clinical cases * Actual patient material * Glossary of genetic and medical terminology Clinical Genetics: A Short Course emphasizes clinical, rather than traditional human genetics, and is a vital resource for medical, clinical, and human geneticists, as well as other health care professionals.

Medical Genetics at a Glance

Author : Dorian J. Pritchard
Publisher : John Wiley & Sons
ISBN 13 : 0470656549
Total Pages : 243 pages
Book Rating : 4.4/5 (76 download)

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Book Synopsis Medical Genetics at a Glance by : Dorian J. Pritchard

Download or read book Medical Genetics at a Glance written by Dorian J. Pritchard and published by John Wiley & Sons. This book was released on 2013-09-23 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The New Genetics and Clinical Practice

Author : D. J. Weatherall
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 396 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The New Genetics and Clinical Practice by : D. J. Weatherall

Download or read book The New Genetics and Clinical Practice written by D. J. Weatherall and published by Oxford University Press, USA. This book was released on 1991 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book introduces non-specialist readers to the principles and scientific background which have provided insight into the study of human genes and their structure, activity, and role in normal and abnormal protein synthesis. This knowledge leads to clearer understanding of the molecular pathology of disease and to an awareness of potential applications to diagnosis and the development of therapeutic techniques.

Oxford Desk Reference

Author : Helen V. Firth
Publisher : Oxford University Press, USA
ISBN 13 : 9780192628961
Total Pages : 708 pages
Book Rating : 4.6/5 (289 download)

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Book Synopsis Oxford Desk Reference by : Helen V. Firth

Download or read book Oxford Desk Reference written by Helen V. Firth and published by Oxford University Press, USA. This book was released on 2005 with total page 708 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Medical Genetics

Author : G. Bradley Schaefer
Publisher : McGraw Hill Professional
ISBN 13 : 0071819282
Total Pages : 452 pages
Book Rating : 4.0/5 (718 download)

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Book Synopsis Medical Genetics by : G. Bradley Schaefer

Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Handbook of Epigenetics

Author : Trygve Tollefsbol
Publisher : Academic Press
ISBN 13 : 0128054778
Total Pages : 682 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Handbook of Epigenetics by : Trygve Tollefsbol

Download or read book Handbook of Epigenetics written by Trygve Tollefsbol and published by Academic Press. This book was released on 2017-07-10 with total page 682 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine Written at a verbal and technical level that can be understood by scientists and college students Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials

Emery's Elements of Medical Genetics

Author : Robert F. Mueller
Publisher :
ISBN 13 :
Total Pages : 388 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Emery's Elements of Medical Genetics by : Robert F. Mueller

Download or read book Emery's Elements of Medical Genetics written by Robert F. Mueller and published by . This book was released on 2001 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

New Clinical Genetics, third edition

Author : Andrew Read
Publisher : Scion Publishing Ltd
ISBN 13 : 1911510525
Total Pages : 474 pages
Book Rating : 4.9/5 (115 download)

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Book Synopsis New Clinical Genetics, third edition by : Andrew Read

Download or read book New Clinical Genetics, third edition written by Andrew Read and published by Scion Publishing Ltd. This book was released on 2015-06-08 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: HIGHLY COMMENDED IN THE 2016 BMA MEDICAL BOOK AWARDS! Instructors’ comments on new, 3rd edition: "I LOVED the book. I've never seen anything like it, and I've reviewed a lot of genetics texts. The way that cases are presented throughout is extremely novel." "I am greatly pleased with the revisions. In my opinion, there is an increased clarity in the text (which will serve students well), and many welcomed updates based on current literature. Good job!" "I LIKE IT A LOT!!" "The book looks good and we will certainly be recommending it for our medical genetics course this autumn." "This is a fantastic book that I enjoy so much teaching from." "I have been reviewing the book. I think it is a great teaching tool since you can follow a case from beginning to end." "I have used this book every year since the first edition was published and it is a perfect fit for my human genetics course. I will definitely continue to use it." "It’s great. I will recommend the book as a main text for the medical student class." In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation a new integrated treatment of epigenetics mosaicism, ‘RASopathies’ and disorders of the spliceosome are described in new Disease boxes dysmorphology in more detail New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists. Reviews of earlier editions: “This book provides a wonderful case-based learning environment. There are also self-assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!” Human Genetics “This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge.” European Journal of Human Genetics

Genomics

Author : Hans C. Andersson, MD
Publisher : Millbrook Press
ISBN 13 : 1728411580
Total Pages : 139 pages
Book Rating : 4.7/5 (284 download)

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Book Synopsis Genomics by : Hans C. Andersson, MD

Download or read book Genomics written by Hans C. Andersson, MD and published by Millbrook Press. This book was released on 2020-09-01 with total page 139 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.

Clinical Precision Medicine

Author : Judy S. Crabtree
Publisher : Academic Press
ISBN 13 : 0128204028
Total Pages : 114 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Clinical Precision Medicine by : Judy S. Crabtree

Download or read book Clinical Precision Medicine written by Judy S. Crabtree and published by Academic Press. This book was released on 2019-11-15 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Clinical Cardiogenetics

Author : H.F. Baars
Publisher : Springer Science & Business Media
ISBN 13 : 1849964718
Total Pages : 455 pages
Book Rating : 4.8/5 (499 download)

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Book Synopsis Clinical Cardiogenetics by : H.F. Baars

Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 455 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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?

CyberGenetics

Author : Anna Harris
Publisher : Routledge
ISBN 13 : 1317368185
Total Pages : 176 pages
Book Rating : 4.3/5 (173 download)

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Book Synopsis CyberGenetics by : Anna Harris

Download or read book CyberGenetics written by Anna Harris and published by Routledge. This book was released on 2016-04-28 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: Online genetic testing services are increasingly being offered to consumers who are becoming exposed to, and knowledgeable about, new kinds of genetic technologies, as the launch of a 23andme genetic testing product in the UK testifies. Genetic research breakthroughs, cheek swabbing forensic pathologists and celebrities discovering their ancestral roots are littered throughout the North American, European and Australasian media landscapes. Genetic testing is now capturing the attention, and imagination, of hundreds of thousands of people who can not only buy genetic tests online, but can also go online to find relatives, share their results with strangers, sign up for personal DNA-based musical scores, and take part in research. This book critically examines this market of direct-to-consumer (DTC) genetic testing from a social science perspective, asking, what happens when genetics goes online? With a focus on genetic testing for disease, the book is about the new social arrangements which emerge when a traditionally clinical practice (genetic testing) is taken into new spaces (the internet). It examines the intersections of new genetics and new media by drawing from three different fields: internet studies; the sociology of health; and science and technology studies. While there has been a surge of research activity concerning DTC genetic testing, particularly in sociology, ethics and law, this is the first scholarly monograph on the topic, and the first book which brings together the social study of genetics and the social study of digital technologies. This book thus not only offers a new overview of this field, but also offers a unique contribution by attending to the digital, and by drawing upon empirical examples from our own research of DTC genetic testing websites (using online methods) and in-depth interviews in the United Kingdom with people using healthcare services.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Author : Reed E. Pyeritz
Publisher : Academic Press
ISBN 13 : 0128152370
Total Pages : 320 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Medical and Health Genomics

Author : Dhavendra Kumar
Publisher : Academic Press
ISBN 13 : 0127999221
Total Pages : 358 pages
Book Rating : 4.1/5 (279 download)

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Book Synopsis Medical and Health Genomics by : Dhavendra Kumar

Download or read book Medical and Health Genomics written by Dhavendra Kumar and published by Academic Press. This book was released on 2016-06-04 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Emery and Rimoin's Principles and Practice of Medical Genetics

Author : David L. Rimoin
Publisher :
ISBN 13 :
Total Pages : 1264 pages
Book Rating : 4.:/5 ( download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by David L. Rimoin and published by . This book was released on 2007 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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.