Essential Medical Genetics

Author : Edward S. Tobias,Michael Connor,Malcolm Ferguson-Smith
Publisher : John Wiley & Sons
Page : 351 pages
File Size : 43,9 Mb
Release : 2011-11-15
Category : Medical
ISBN : 9781118293706

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Essential Medical Genetics by Edward S. Tobias,Michael Connor,Malcolm Ferguson-Smith Pdf

Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions. This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store.

Author : Michael Connor,Malcolm Ferguson-Smith
Publisher : Wiley-Blackwell
Page : 248 pages
File Size : 51,7 Mb
Release : 1997-04-29
Category : Medical
ISBN : 086542666X

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Essential Medical Genetics by Michael Connor,Malcolm Ferguson-Smith Pdf

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.

Author : David L. Rimoin,Reed E. Pyeritz,Bruce Korf
Publisher : Elsevier
Page : 647 pages
File Size : 55,6 Mb
Release : 2013-05-15
Category : Science
ISBN : 9780124169821

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Emery and Rimoin's Essential Medical Genetics by David L. Rimoin,Reed E. Pyeritz,Bruce Korf Pdf

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

Author : James Michael Connor
Publisher : Unknown
Page : 236 pages
File Size : 53,7 Mb
Release : 1997
Category : Medical genetics
ISBN : OCLC:1244724746

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Essential Medical Genetics by James Michael Connor Pdf

The basic principles are clearly explained using the genome and chromosome as the source of pathogenesis in genetic disease. The book includes colour plates to demonstrate modern cytokines and the emphasis is on the essentials of modern medical genetics.

Author : Laura M. Gunder McClary,Gunder,Scott A. Martin
Publisher : Jones & Bartlett Publishers
Page : 249 pages
File Size : 55,7 Mb
Release : 2010-09-17
Category : Medical
ISBN : 9781449618087

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Essentials of Medical Genetics for Health Professionals by Laura M. Gunder McClary,Gunder,Scott A. Martin Pdf

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.

Author : Edward S. Tobias,Michael Connor,Malcolm Ferguson-Smith
Publisher : John Wiley & Sons
Page : 351 pages
File Size : 51,8 Mb
Release : 2011-03-21
Category : Medical
ISBN : 9781405169745

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Essential Medical Genetics, Includes Desktop Edition by Edward S. Tobias,Michael Connor,Malcolm Ferguson-Smith Pdf

Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions. This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store.

Author : Daniel L. Hartl,Elizabeth W. Jones
Publisher : Jones & Bartlett Learning
Page : 628 pages
File Size : 46,5 Mb
Release : 2006
Category : Science
ISBN : 0763735272

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Essential Genetics by Daniel L. Hartl,Elizabeth W. Jones Pdf

Completely updated to reflect new discoveries and current thinking in the field, the Fourth Edition of Essential Genetics is designed for the shorter, less comprehensive introductory course in genetics. The text is written in a clear, lively, and concise manner and includes many special features that make the book user friendly. Topics were carefully chosen to provide a solid foundation for understanding the basic processes of gene transmission, mutation, expression, and regulation. The text also helps students develop skills in problem solving, achieve a sense of the social and historical context in which genetics has developed, and become aware of the genetic resources and information available through the Internet.

Author : Dorian J. Pritchard,Bruce R. Korf
Publisher : John Wiley & Sons
Page : 243 pages
File Size : 46,7 Mb
Release : 2013-09-23
Category : Medical
ISBN : 9780470656549

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Medical Genetics at a Glance by Dorian J. Pritchard,Bruce R. Korf Pdf

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.

Author : Robert F. Mueller,Ian D. Young,Alan E. H. Emery
Publisher : Unknown
Page : 388 pages
File Size : 45,9 Mb
Release : 2001
Category : Medical
ISBN : UOM:39015053139039

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Emery's Elements of Medical Genetics by Robert F. Mueller,Ian D. Young,Alan E. H. Emery Pdf

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.

Author : Charles G. Crispens
Publisher : HarperCollins Publishers
Page : 224 pages
File Size : 41,5 Mb
Release : 1971
Category : Medical
ISBN : UOM:39015003773531

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Essentials of Medical Genetics by Charles G. Crispens Pdf

Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Page : 320 pages
File Size : 48,5 Mb
Release : 2021-11-02
Category : Science
ISBN : 9780128152379

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf

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

Author : Golder Wilson
Publisher : Wiley-Liss
Page : 500 pages
File Size : 50,5 Mb
Release : 2000
Category : Medical
ISBN : UOM:39015050314163

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Clinical Genetics by Golder Wilson Pdf

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.

Author : Bruce R. Korf,Mira B. Irons
Publisher : John Wiley & Sons
Page : 280 pages
File Size : 55,6 Mb
Release : 2012-11-19
Category : Medical
ISBN : 9781118537664

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Human Genetics and Genomics by Bruce R. Korf,Mira B. Irons Pdf

This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Author : David L. Rimoin,Alan E. H. Emery
Publisher : Unknown
Page : 1264 pages
File Size : 49,8 Mb
Release : 2007
Category : Genetic disorders
ISBN : UCLA:L0099470627

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Emery and Rimoin's Principles and Practice of Medical Genetics by David L. Rimoin,Alan E. H. Emery Pdf

"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.

Author : Israel Gomy
Publisher : BoD – Books on Demand
Page : 106 pages
File Size : 45,5 Mb
Release : 2019-12-18
Category : Medical
ISBN : 9781839681424

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Modern Medical Genetics and Genomics by Israel Gomy Pdf

The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.