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Book Handbook of Clinical Adult Genetics and Genomics

Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Book Genomics in the Clinic

    Book Details:
  • Author : Antonie D. Kline
  • Publisher : Academic Press
  • Release : 2023-11-04
  • ISBN : 0128164794
  • Pages : 622 pages

Download or read book Genomics in the Clinic written by Antonie D. Kline and published by Academic Press. This book was released on 2023-11-04 with total page 622 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime

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

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

Book Genetics for the Health Sciences

Download or read book Genetics for the Health Sciences written by Heather Skirton and published by Scion Publishing. This book was released on 2009 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on their extensive experience of clinical work, the authors emphasize the practical issues related to the healthcare of individuals and families. Genetics for the Health Sciencestakes an holistic approach, from preconception to adulthood, and addresses the false notion that clinical genetics is of relevance only to those who are planning a family. The book enables nurses, midwives, genetic counselors and doctors to apply the general principles of genetics in their routine clinical practice. As well as discussing the basic principles, Genetics for the Health Sciencesalso describes the latest technologies and shows how these can be applied to clinical practice. This is an essential text which helps all those in clinical healthcare understand the genetics they need in their professional roles. It is also an ideal coursebook for students in the healthcare professions seeking an understanding of core genetic principles and how these are applied in practice. Reviews: ''The text is a compact, concise presentation of the basic concepts in genetics science and the impact of genetics across the lifespan. The organization of the text increases its usefulness to clinicians as each specialty area could easily locate the information most pertinent to their work...The text is well illustrated throughout, again providing summarized information that is easily accessed. An especially helpful feature of this text is the presence of multiple case studies in each chapter, making this text particularly useful for teaching. I think faculty teaching students in advanced practice nursing programs and allied health courses would find this text a succinct addition to their course. However, I could also see this text being useful in RN preparation curriculum. It could easily be a text that would carry over for several specialty areas and provide additional material specific to genetics in each area. Genetics for Health Sciences: A Handbook for Clinical Healthcare is a welcome addition to the rather sparse choices available for presenting genetics content in clinical practice curriculum. Rebekah Hamilton, ISONG, June 2010 ''Tremendous progress in recent years has shaped the field of medical genetics, which continues to expand to involve almost every aspect of human health. Hence, it is necessary for every healthcare professional to acquire a basic understanding of this science. This is clearly the objective of this well-edited and structured book by Skirton and Patch in its second updated edition. The authors'' considerable experience in genetics, through direct clinical practice in addition to organisational and academic roles, can be appreciated in the practical aspect of their writing. The book starts with useful definitions and alerts the reader to the wide applicability of genetics through clinical cases, raising questions that are answered and discussed when relevant in later chapters. Important aspects of genetic counselling, from basic skills such as risk estimation using family trees to more complex ones related to effective ethical communication with the clients in the light of their needs and the different models of counselling, are then discussed in two chapters. However, given their intrinsic function in medical genetics, these issues are also efficiently tackled in the clinical cases outlined in each chapter. The authors then describe important scientific concepts and techniques that are necessary for a good clinical understanding of genetics. Although this section may seem short, the additional resources provided at the end are very useful. Likewise, for all topics covered in the book, the updated links provided serve as a handy catalogue for the health professional seeking extra information. Next, the concepts and techniques described in the first part of the book are applied directly to common genetic conditions and issues faced by different age groups, from prenatal care to older adulthood in separate chapters. This organisation puts into perspective the importance of genetics in different medical specialities and settings. This book, with its concise yet comprehensive explanation of a complex rapidly growing field, should prove to be a valuable resource for a diverse audience of health professionals, including midwives, nurses and physicians, who confront genetic issues during their daily practice without being specialists in medical genetics.'' Nadine Taleb, Journal of Medical Genetics ''When first asked to write this book review I thought to myself how it would be important to give a rounded report on both the book''s strengths and weaknesses. After reading the book, however, I realised that it is difficult to find weaknesses. The authors, Heather Skirton and Christine Patch, between them have over 30 years of experience in clinical genetics. Their experience of explaining genetics in their professional roles shines through in the way they have written the book. They make complex genetic principles interesting and understandable. The book does not baffle or patronise. The book is easily navigated. It is broken down into clear chapters that are ordered in a pleasingly logical way. The first chapter ''sets the scene'' by introducing the reader to important concepts related to genetic health care including issues such as ethical practice, the different forms of genetic testing and the impact of genetic conditions on families. The next chapters then discuss the family tree, counselling issues, genetic science and public health genetics. The remaining chapters then explore the core topics relating to particular life stages from preconception to older adulthood. It engages the reader from the start when it introduces seven ''core'' families that reappear throughout the book to highlight a number of key issues. The text is peppered with clear illustrations, useful step by step guides, practical checklists, and test yourself sections making the book lively and dynamic. The test yourself sections make the book student friendly and would also make good teaching aids to lecturers and tutors. At the start of the book there is a list of helpful websites and at the end of each chapter there is a list of resources for those who wish to extend their knowledge. One of the main strengths of this book is its refreshingly practical approach. All too often books can be written in a way in which it is difficult for the reader to transfer the knowledge that they have gained into their day-to-day practice. The introduction states that ''the aim of this book is to enable those in healthcare to update their knowledge on topics related to genetics and genomics that have an impact in their daily work and apply it usefully in patient care''. Given the fact that genetics has increasingly become a core component in a number of specialties, one would think that meeting this aim for all would be a tall order. This book however eloquently does so using case examples and key practice points boxes throughout to demonstrate the clinical application of the topic under discussion. Another of the book''s main strengths is the way in which it promotes individualised care by enabling the reader to consider the impact of genetic conditions from the patients'' point of view. Genetics for the Health Sciencesbrings genetics into common healthcare settings. It is highly recommended as an essential text for health care professionals in roles across all specialties. It is also recommended to students, lecturers, social scientists; to anyone who has an interest in genetics and wishes to extend their knowledge. It is a joy to read and could be read from cover to cover.'' Helen Thistlewood, Medical Genetics ''Genetics is at the forefront of medicine and nurses are expected to have a basic understanding of the subject. This handbook is well written and the authors do a good job of making this complex topic understandable. The book lists prenatal, childhood and adult genetic conditions that may involve testing and counselling. Genetic services, types of genetic testing and the impact of genetic conditions on families are discussed in depth, and case studies highlight the emotional and psychological needs of patients and their families. Guidelines for drawing family trees and practical examples of risk assessment are well explained. The perspective of the patient regarding risk and lay knowledge is also considered... All departments should have a copy of this book on their shelves.'' Audrey Ardern-Jones, Nursing Standard

Book New Clinical Genetics  fourth edition

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

Book Clinical Genomics

    Book Details:
  • Author : Shashikant Kulkarni
  • Publisher : Academic Press
  • Release : 2014-11-10
  • ISBN : 0124051731
  • Pages : 489 pages

Download or read book Clinical Genomics written by Shashikant Kulkarni and published by Academic Press. This book was released on 2014-11-10 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Book Oxford Desk Reference

    Book Details:
  • Author : Helen V. Firth
  • Publisher : Oxford University Press, USA
  • Release : 2005
  • ISBN : 9780192628961
  • Pages : 708 pages

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.

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

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 2018-11-20 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 detailed coverage in 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. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics

Book Medical Genetics and Genomics

Download or read book Medical Genetics and Genomics written by Benjamin D. Solomon and published by John Wiley & Sons. This book was released on 2022-08-08 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics and Genomics A comprehensive question-and-answer book for those preparing for board examinations on clinical genetics Medical Genetics and Genomics: Questions for Board Review provides more than 350 high-yield multiple choice questions (MCQs) to help readers prepare for standardized examinations for accreditation and ongoing certification in the various fields of medical genetics and genomics, as well as other trainees and learners who want to understand more about the field. Written by a leading authority in clinical genetics with extensive teaching experience in academia, government, biotech, and in healthcare, this invaluable study aid covers essential terminology, clinical diagnosis and manifestations of specific conditions, laboratory and testing approaches, management of genetic conditions, and more. The questions are organized into thematic areas to help readers focus on specific areas within the field of genetics and genomics. Each section of questions is followed by fully annotated answers with concise explanations and up-to-date references. Throughout the book, high-quality illustrations are presented to enhance understanding of all key concepts. Contains more than 350 multiple choice questions covering multiple areas of genetics Provides clear and concise answers with brief and focused explanations Helpful for preparation for American Board of Medical Genetics and Genomics (ABMGG) and American Board of Genetic Counseling (ABGC) board examinations, as well as for general study of medical genetics and genomics Includes full references to scientific and medical articles, traditional textbooks, online articles, and other internet resources Medical Genetics and Genomics: Questions for Board Review is a must-have for clinical trainees, physicians, laboratory geneticists, genetic counselors, and allied health professionals working in medical genetics.

Book Emery s Elements of Medical Genetics E Book

Download or read book Emery s Elements of Medical Genetics E Book written by Peter D Turnpenny and published by Elsevier Health Sciences. This book was released on 2020-12-15 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics. Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.

Book Psychiatric Genetics and Genomics

Download or read book Psychiatric Genetics and Genomics written by Peter McGuffin and published by Oxford University Press. This book was released on 2004-09-23 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: From reviews of the hardback:'It is timely to see such an excellent textbook... Aimed at graduate level students, this book is complex enough to be thorough, but clear with enough background to be accessible... the coverage is comprehensive and the flow logical... The text is uniformly well written and achieves a successful integration.' -The Lancet'A good introduction and reference book for professionals interested in psychiatric genetics such as psychiatrists, clinical psychologists and neuroscientists... the book you want to have on your bookshelf to look up material and obtain a complete and balanced picture of the field.' -Psychological MedicineRevised for paperback edition, with new appendicesGenetics promises to provide one of the most powerful approaches to understanding the functional pathology of the human brain. This book presents a critical review of the evidence for a genetic contribution to common psychiatric conditions and the rarer single-gene disorders that may have psychiatric presentations.The first section of the book introduces the reader to molecular biology and the techniques of molecular genetics. The coverage then moves on to consider the genetics of normal and abnormal development, followed by a look at the genetics of abnormal behaviour in adults. This section includes, amongst others, consideration of personality disorders, schizophrenia and the dementias. The final section considers the applications of the work and covers issues such as counselling and ethics, closing with a look to the future.The editors are internationally renowned figures in this field and they have invited a team of equally eminent chapter authors.Readership: Psychiatrists, clinical psychologists, geneticists, neuroscientists and neurologists

Book Oxford Desk Reference  Clinical Genetics and Genomics

Download or read book Oxford Desk Reference Clinical Genetics and Genomics written by Helen V. Firth and published by Oxford University Press. This book was released on 2017 with total page 935 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Book Medical Genetics

Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2006 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.

Book Human Genetics and Genomics

Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Essentials of Clinical Genetics in Nursing Practice

Download or read book Essentials of Clinical Genetics in Nursing Practice written by Felissa R. Lashley and published by Springer Publishing Company. This book was released on 2007 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: Print+CourseSmart

Book Human Genetics and Genomics  Includes Wiley E Text

Download or read book Human Genetics and Genomics Includes Wiley E Text written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2013-02-11 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Emery s Elements of Medical Genetics

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.